The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Identifieur interne : 004443 ( Ncbi/Merge ); précédent : 004442; suivant : 004444The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Auteurs : Christian J. Hendriksz [Royaume-Uni] ; Mathieu Anheim [France] ; Peter Bauer [Allemagne] ; Olivier Bonnot [France] ; Anupam Chakrapani [Royaume-Uni] ; Jean-Christophe Corvol [France] ; Tom J. De Koning [Pays-Bas] ; Anna Degtyareva [Russie] ; Carlo Dionisi-Vici [Italie] ; Sarah Doss [Allemagne] ; Thomas Duning [Allemagne] ; Paola Giunti [Royaume-Uni] ; Rosa Iodice [Italie] ; Tracy Johnston [Royaume-Uni] ; Dierdre Kelly [Royaume-Uni] ; Hans-Hermann Klünemann [Allemagne] ; Stefan Lorenzl [Allemagne] ; Alessandro Padovani [Italie] ; Miguel Pocovi [Espagne] ; Matthis Synofzik [Allemagne] ; Alta Terblanche [Afrique du Sud] ; Florian Then Bergh [Allemagne] ; Meral Topçu [Turquie] ; Christine Tranchant [France] ; Mark Walterfang [Australie] ; Christian Velten [Suisse] ; Stefan A. Kolb [Suisse]Source :
- Current medical research and opinion [ 1473-4877 ] ; 2017.
Descripteurs français
- KwdFr :
- MESH :
- épidémiologie : Maladie de Niemann-Pick de type C, Maladies rares.
- Humains, Prévalence.
English descriptors
- KwdEn :
- MESH :
- epidemiology : Niemann-Pick Disease, Type C, Rare Diseases.
- Humans, Prevalence.
Abstract
Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C. Patients in these at-risk groups ("clinical niches") have symptoms that are potentially related to NP-C, but go unrecognized due to other, more prevalent clinical features, and lack of awareness regarding underlying metabolic causes.
DOI: 10.1080/03007995.2017.1294054
PubMed: 28276873
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Hendriksz</name><affiliation wicri:level="1"><nlm:affiliation>a Salford Royal NHS Foundation Trust , Manchester , UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>a Salford Royal NHS Foundation Trust , Manchester </wicri:regionArea><wicri:noRegion>Manchester </wicri:noRegion></affiliation></author><author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><affiliation wicri:level="1"><nlm:affiliation>c University of Strasbourg , Hautepierre Hospital , Strasbourg , France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>c University of Strasbourg , Hautepierre Hospital , Strasbourg </wicri:regionArea><wicri:noRegion>Strasbourg </wicri:noRegion><wicri:noRegion>Strasbourg </wicri:noRegion></affiliation></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><affiliation wicri:level="3"><nlm:affiliation>d Institute of Medical Genetics and Applied Genomics, Tübingen University , Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>d Institute of Medical Genetics and Applied Genomics, Tübingen University , Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Bonnot, Olivier" sort="Bonnot, Olivier" uniqKey="Bonnot O" first="Olivier" last="Bonnot">Olivier Bonnot</name><affiliation wicri:level="1"><nlm:affiliation>f CHU and University of Nantes , Nantes , France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>f CHU and University of Nantes , Nantes </wicri:regionArea><wicri:noRegion>Nantes </wicri:noRegion><wicri:noRegion>Nantes </wicri:noRegion></affiliation></author><author><name sortKey="Chakrapani, Anupam" sort="Chakrapani, Anupam" uniqKey="Chakrapani A" first="Anupam" last="Chakrapani">Anupam Chakrapani</name><affiliation wicri:level="1"><nlm:affiliation>g Great Ormond St Hospital for Children , London , UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>g Great Ormond St Hospital for Children , London </wicri:regionArea><wicri:noRegion>London </wicri:noRegion></affiliation></author><author><name sortKey="Corvol, Jean Christophe" sort="Corvol, Jean Christophe" uniqKey="Corvol J" first="Jean-Christophe" last="Corvol">Jean-Christophe Corvol</name><affiliation wicri:level="1"><nlm:affiliation>h Sorbonne University , UPMC and Hôpital Pitié-Salpêtrière, Department of Nervous System Diseases , Paris , France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>h Sorbonne University , UPMC and Hôpital Pitié-Salpêtrière, Department of Nervous System Diseases , Paris </wicri:regionArea><wicri:noRegion>Paris </wicri:noRegion><wicri:noRegion>Paris </wicri:noRegion></affiliation></author><author><name sortKey="De Koning, Tom J" sort="De Koning, Tom J" uniqKey="De Koning T" first="Tom J" last="De Koning">Tom J. De Koning</name><affiliation wicri:level="1"><nlm:affiliation>i University of Groningen , Groningen , the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>i University of Groningen , Groningen </wicri:regionArea><wicri:noRegion>Groningen </wicri:noRegion></affiliation></author><author><name sortKey="Degtyareva, Anna" sort="Degtyareva, Anna" uniqKey="Degtyareva A" first="Anna" last="Degtyareva">Anna Degtyareva</name><affiliation wicri:level="1"><nlm:affiliation>j Federal State Budget Institution, Research Center for Obstetrics , Gynecology and Perinatology , Moscow , Russia.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>j Federal State Budget Institution, Research Center for Obstetrics , Gynecology and Perinatology , Moscow </wicri:regionArea><wicri:noRegion>Moscow </wicri:noRegion></affiliation></author><author><name sortKey="Dionisi Vici, Carlo" sort="Dionisi Vici, Carlo" uniqKey="Dionisi Vici C" 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</wicri:noRegion></affiliation></author><author><name sortKey="Kelly, Dierdre" sort="Kelly, Dierdre" uniqKey="Kelly D" first="Dierdre" last="Kelly">Dierdre Kelly</name><affiliation wicri:level="1"><nlm:affiliation>q Birmingham Children's Hospital , Birmingham , UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>q Birmingham Children's Hospital , Birmingham </wicri:regionArea><wicri:noRegion>Birmingham </wicri:noRegion></affiliation></author><author><name sortKey="Klunemann, Hans Hermann" sort="Klunemann, Hans Hermann" uniqKey="Klunemann H" first="Hans-Hermann" last="Klünemann">Hans-Hermann Klünemann</name><affiliation wicri:level="1"><nlm:affiliation>r University Clinic for Psychiatry and Psychotherapy, Regensburg University , Regensburg , Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>r University Clinic for Psychiatry and Psychotherapy, Regensburg University , Regensburg 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Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>u Neurology Unit, Department of Clinical and Experimental Sciences , University of Brescia , Brescia </wicri:regionArea><wicri:noRegion>Brescia </wicri:noRegion></affiliation></author><author><name sortKey="Pocovi, Miguel" sort="Pocovi, Miguel" uniqKey="Pocovi M" first="Miguel" last="Pocovi">Miguel Pocovi</name><affiliation wicri:level="1"><nlm:affiliation>v University of Zaragoza , IISA, Zaragoza , Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>v University of Zaragoza , IISA, Zaragoza </wicri:regionArea><wicri:noRegion>Zaragoza </wicri:noRegion></affiliation></author><author><name sortKey="Synofzik, Matthis" sort="Synofzik, Matthis" uniqKey="Synofzik M" first="Matthis" last="Synofzik">Matthis Synofzik</name><affiliation wicri:level="3"><nlm:affiliation>w Department of Neurodegenerative Diseases , Hertie Institute for Clinical Brain Research , Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>w Department of Neurodegenerative Diseases , Hertie Institute for Clinical Brain Research , Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Terblanche, Alta" sort="Terblanche, Alta" uniqKey="Terblanche A" first="Alta" last="Terblanche">Alta Terblanche</name><affiliation wicri:level="1"><nlm:affiliation>b University of Pretoria , Pretoria , South Africa.</nlm:affiliation><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>b University of Pretoria , Pretoria </wicri:regionArea><wicri:noRegion>Pretoria </wicri:noRegion></affiliation></author><author><name sortKey="Then Bergh, Florian" sort="Then Bergh, Florian" uniqKey="Then Bergh F" first="Florian" last="Then Bergh">Florian Then Bergh</name><affiliation wicri:level="1"><nlm:affiliation>y University of Leipzig , Department of Neurology , Leipzig , Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>y University of Leipzig , Department of Neurology , Leipzig </wicri:regionArea><wicri:noRegion>Leipzig </wicri:noRegion><wicri:noRegion>Leipzig </wicri:noRegion><wicri:noRegion>Leipzig </wicri:noRegion></affiliation></author><author><name sortKey="Topcu, Meral" sort="Topcu, Meral" uniqKey="Topcu M" first="Meral" last="Topçu">Meral Topçu</name><affiliation wicri:level="1"><nlm:affiliation>z Hacettepe University Children's Hospital , Ankara , Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>z Hacettepe University Children's Hospital , Ankara </wicri:regionArea><wicri:noRegion>Ankara </wicri:noRegion></affiliation></author><author><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name><affiliation wicri:level="1"><nlm:affiliation>aa CHU Strasburg , Strasburg , France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>aa CHU Strasburg , Strasburg </wicri:regionArea><wicri:noRegion>Strasburg </wicri:noRegion><wicri:noRegion>Strasburg </wicri:noRegion></affiliation></author><author><name sortKey="Walterfang, Mark" sort="Walterfang, Mark" uniqKey="Walterfang M" first="Mark" last="Walterfang">Mark Walterfang</name><affiliation wicri:level="1"><nlm:affiliation>ab Royal Melbourne Hospital , Melbourne , Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>ab Royal Melbourne Hospital , Melbourne </wicri:regionArea><wicri:noRegion>Melbourne </wicri:noRegion></affiliation></author><author><name sortKey="Velten, Christian" sort="Velten, Christian" uniqKey="Velten C" first="Christian" last="Velten">Christian Velten</name><affiliation wicri:level="1"><nlm:affiliation>ac Actelion Pharmaceuticals Ltd , Allschwil , Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>ac Actelion Pharmaceuticals Ltd , Allschwil </wicri:regionArea><wicri:noRegion>Allschwil </wicri:noRegion></affiliation></author><author><name sortKey="Kolb, Stefan A" sort="Kolb, Stefan A" uniqKey="Kolb S" first="Stefan A" last="Kolb">Stefan A. Kolb</name><affiliation wicri:level="1"><nlm:affiliation>ac Actelion Pharmaceuticals Ltd , Allschwil , Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>ac Actelion Pharmaceuticals Ltd , Allschwil </wicri:regionArea><wicri:noRegion>Allschwil </wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28276873</idno><idno type="pmid">28276873</idno><idno type="doi">10.1080/03007995.2017.1294054</idno><idno type="wicri:Area/PubMed/Corpus">000C40</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000C40</idno><idno type="wicri:Area/PubMed/Curation">000C37</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000C37</idno><idno type="wicri:Area/PubMed/Checkpoint">000C37</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000C37</idno><idno type="wicri:Area/Ncbi/Merge">004443</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.</title><author><name sortKey="Hendriksz, Christian J" sort="Hendriksz, Christian J" uniqKey="Hendriksz C" first="Christian J" last="Hendriksz">Christian J. Hendriksz</name><affiliation wicri:level="1"><nlm:affiliation>a Salford Royal NHS Foundation Trust , Manchester , UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>a Salford Royal NHS Foundation Trust , Manchester </wicri:regionArea><wicri:noRegion>Manchester </wicri:noRegion></affiliation></author><author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><affiliation wicri:level="1"><nlm:affiliation>c University of Strasbourg , Hautepierre Hospital , Strasbourg , France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>c University of Strasbourg , Hautepierre Hospital , Strasbourg </wicri:regionArea><wicri:noRegion>Strasbourg </wicri:noRegion><wicri:noRegion>Strasbourg </wicri:noRegion></affiliation></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><affiliation wicri:level="3"><nlm:affiliation>d Institute of Medical Genetics and Applied Genomics, Tübingen University , Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>d Institute of Medical Genetics and Applied Genomics, Tübingen University , Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Bonnot, Olivier" sort="Bonnot, Olivier" uniqKey="Bonnot O" first="Olivier" last="Bonnot">Olivier Bonnot</name><affiliation wicri:level="1"><nlm:affiliation>f CHU and University of Nantes , Nantes , France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>f CHU and University of Nantes , Nantes </wicri:regionArea><wicri:noRegion>Nantes </wicri:noRegion><wicri:noRegion>Nantes </wicri:noRegion></affiliation></author><author><name sortKey="Chakrapani, Anupam" sort="Chakrapani, Anupam" uniqKey="Chakrapani A" first="Anupam" last="Chakrapani">Anupam Chakrapani</name><affiliation wicri:level="1"><nlm:affiliation>g Great Ormond St Hospital for Children , London , UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>g Great Ormond St Hospital for Children , London </wicri:regionArea><wicri:noRegion>London </wicri:noRegion></affiliation></author><author><name sortKey="Corvol, Jean Christophe" sort="Corvol, Jean Christophe" uniqKey="Corvol J" first="Jean-Christophe" last="Corvol">Jean-Christophe Corvol</name><affiliation wicri:level="1"><nlm:affiliation>h Sorbonne University , UPMC and Hôpital Pitié-Salpêtrière, Department of Nervous System Diseases , Paris , France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>h Sorbonne University , UPMC and Hôpital Pitié-Salpêtrière, Department of Nervous System Diseases , Paris </wicri:regionArea><wicri:noRegion>Paris </wicri:noRegion><wicri:noRegion>Paris </wicri:noRegion></affiliation></author><author><name sortKey="De Koning, Tom J" sort="De Koning, Tom J" uniqKey="De Koning T" first="Tom J" last="De Koning">Tom J. De Koning</name><affiliation wicri:level="1"><nlm:affiliation>i University of Groningen , Groningen , the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>i University of Groningen , Groningen </wicri:regionArea><wicri:noRegion>Groningen </wicri:noRegion></affiliation></author><author><name sortKey="Degtyareva, Anna" sort="Degtyareva, Anna" uniqKey="Degtyareva A" first="Anna" last="Degtyareva">Anna Degtyareva</name><affiliation wicri:level="1"><nlm:affiliation>j Federal State Budget Institution, Research Center for Obstetrics , Gynecology and Perinatology , Moscow , Russia.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>j Federal State Budget Institution, Research Center for Obstetrics , Gynecology and Perinatology , Moscow </wicri:regionArea><wicri:noRegion>Moscow </wicri:noRegion></affiliation></author><author><name sortKey="Dionisi Vici, Carlo" sort="Dionisi Vici, Carlo" uniqKey="Dionisi Vici C" first="Carlo" last="Dionisi-Vici">Carlo Dionisi-Vici</name><affiliation wicri:level="1"><nlm:affiliation>k Bambino Gesù Children's Hospital , Rome , Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>k Bambino Gesù Children's Hospital , Rome </wicri:regionArea><wicri:noRegion>Rome </wicri:noRegion></affiliation></author><author><name sortKey="Doss, Sarah" sort="Doss, Sarah" uniqKey="Doss S" first="Sarah" last="Doss">Sarah Doss</name><affiliation wicri:level="1"><nlm:affiliation>l Charite University Medicine Berlin , Department of Neurology , Berlin , Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>l Charite University Medicine Berlin , Department of Neurology , Berlin </wicri:regionArea><wicri:noRegion>Berlin </wicri:noRegion><wicri:noRegion>Berlin </wicri:noRegion><wicri:noRegion>Berlin </wicri:noRegion></affiliation></author><author><name sortKey="Duning, Thomas" sort="Duning, Thomas" uniqKey="Duning T" first="Thomas" last="Duning">Thomas Duning</name><affiliation wicri:level="3"><nlm:affiliation>m Münster University Hospital , Münster, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>m Münster University Hospital , Münster</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name><affiliation wicri:level="4"><nlm:affiliation>n University College London, Institute of Neurology , London , UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>n University College London, Institute of Neurology , London </wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Iodice, Rosa" sort="Iodice, Rosa" uniqKey="Iodice R" first="Rosa" last="Iodice">Rosa Iodice</name><affiliation wicri:level="1"><nlm:affiliation>o University Federico II Naples , Naples , Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>o University Federico II Naples , Naples </wicri:regionArea><wicri:noRegion>Naples </wicri:noRegion></affiliation></author><author><name sortKey="Johnston, Tracy" sort="Johnston, Tracy" uniqKey="Johnston T" first="Tracy" last="Johnston">Tracy Johnston</name><affiliation wicri:level="1"><nlm:affiliation>p Birmingham Women's Hospital , Birmingham , UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>p Birmingham Women's Hospital , Birmingham </wicri:regionArea><wicri:noRegion>Birmingham </wicri:noRegion></affiliation></author><author><name sortKey="Kelly, Dierdre" sort="Kelly, Dierdre" uniqKey="Kelly D" first="Dierdre" last="Kelly">Dierdre Kelly</name><affiliation wicri:level="1"><nlm:affiliation>q Birmingham Children's Hospital , Birmingham , UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>q Birmingham Children's Hospital , Birmingham </wicri:regionArea><wicri:noRegion>Birmingham </wicri:noRegion></affiliation></author><author><name sortKey="Klunemann, Hans Hermann" sort="Klunemann, Hans Hermann" uniqKey="Klunemann H" first="Hans-Hermann" last="Klünemann">Hans-Hermann Klünemann</name><affiliation wicri:level="1"><nlm:affiliation>r University Clinic for Psychiatry and Psychotherapy, Regensburg University , Regensburg , Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>r University Clinic for Psychiatry and Psychotherapy, Regensburg University , Regensburg </wicri:regionArea><wicri:noRegion>Regensburg </wicri:noRegion><wicri:noRegion>Regensburg </wicri:noRegion><wicri:noRegion>Regensburg </wicri:noRegion></affiliation></author><author><name sortKey="Lorenzl, Stefan" sort="Lorenzl, Stefan" uniqKey="Lorenzl S" first="Stefan" last="Lorenzl">Stefan Lorenzl</name><affiliation wicri:level="1"><nlm:affiliation>s Ludwig Maximillian University , Munich , Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>s Ludwig Maximillian University , Munich </wicri:regionArea><wicri:noRegion>Munich </wicri:noRegion><wicri:noRegion>Munich </wicri:noRegion><wicri:noRegion>Munich </wicri:noRegion></affiliation></author><author><name sortKey="Padovani, Alessandro" sort="Padovani, Alessandro" uniqKey="Padovani A" first="Alessandro" last="Padovani">Alessandro Padovani</name><affiliation wicri:level="1"><nlm:affiliation>u Neurology Unit, Department of Clinical and Experimental Sciences , University of Brescia , Brescia , Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>u Neurology Unit, Department of Clinical and Experimental Sciences , University of Brescia , Brescia </wicri:regionArea><wicri:noRegion>Brescia </wicri:noRegion></affiliation></author><author><name sortKey="Pocovi, Miguel" sort="Pocovi, Miguel" uniqKey="Pocovi M" first="Miguel" last="Pocovi">Miguel Pocovi</name><affiliation wicri:level="1"><nlm:affiliation>v University of Zaragoza , IISA, Zaragoza , Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>v University of Zaragoza , IISA, Zaragoza </wicri:regionArea><wicri:noRegion>Zaragoza </wicri:noRegion></affiliation></author><author><name sortKey="Synofzik, Matthis" sort="Synofzik, Matthis" uniqKey="Synofzik M" first="Matthis" last="Synofzik">Matthis Synofzik</name><affiliation wicri:level="3"><nlm:affiliation>w Department of Neurodegenerative Diseases , Hertie Institute for Clinical Brain Research , Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>w Department of Neurodegenerative Diseases , Hertie Institute for Clinical Brain Research , Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Terblanche, Alta" sort="Terblanche, Alta" uniqKey="Terblanche A" first="Alta" last="Terblanche">Alta Terblanche</name><affiliation wicri:level="1"><nlm:affiliation>b University of Pretoria , Pretoria , South Africa.</nlm:affiliation><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>b University of Pretoria , Pretoria </wicri:regionArea><wicri:noRegion>Pretoria </wicri:noRegion></affiliation></author><author><name sortKey="Then Bergh, Florian" sort="Then Bergh, Florian" uniqKey="Then Bergh F" first="Florian" last="Then Bergh">Florian Then Bergh</name><affiliation wicri:level="1"><nlm:affiliation>y University of Leipzig , Department of Neurology , Leipzig , Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>y University of Leipzig , Department of Neurology , Leipzig </wicri:regionArea><wicri:noRegion>Leipzig </wicri:noRegion><wicri:noRegion>Leipzig </wicri:noRegion><wicri:noRegion>Leipzig </wicri:noRegion></affiliation></author><author><name sortKey="Topcu, Meral" sort="Topcu, Meral" uniqKey="Topcu M" first="Meral" last="Topçu">Meral Topçu</name><affiliation wicri:level="1"><nlm:affiliation>z Hacettepe University Children's Hospital , Ankara , Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>z Hacettepe University Children's Hospital , Ankara </wicri:regionArea><wicri:noRegion>Ankara </wicri:noRegion></affiliation></author><author><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name><affiliation wicri:level="1"><nlm:affiliation>aa CHU Strasburg , Strasburg , France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>aa CHU Strasburg , Strasburg </wicri:regionArea><wicri:noRegion>Strasburg </wicri:noRegion><wicri:noRegion>Strasburg </wicri:noRegion></affiliation></author><author><name sortKey="Walterfang, Mark" sort="Walterfang, Mark" uniqKey="Walterfang M" first="Mark" last="Walterfang">Mark Walterfang</name><affiliation wicri:level="1"><nlm:affiliation>ab Royal Melbourne Hospital , Melbourne , Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>ab Royal Melbourne Hospital , Melbourne </wicri:regionArea><wicri:noRegion>Melbourne </wicri:noRegion></affiliation></author><author><name sortKey="Velten, Christian" sort="Velten, Christian" uniqKey="Velten C" first="Christian" last="Velten">Christian Velten</name><affiliation wicri:level="1"><nlm:affiliation>ac Actelion Pharmaceuticals Ltd , Allschwil , Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>ac Actelion Pharmaceuticals Ltd , Allschwil </wicri:regionArea><wicri:noRegion>Allschwil </wicri:noRegion></affiliation></author><author><name sortKey="Kolb, Stefan A" sort="Kolb, Stefan A" uniqKey="Kolb S" first="Stefan A" last="Kolb">Stefan A. Kolb</name><affiliation wicri:level="1"><nlm:affiliation>ac Actelion Pharmaceuticals Ltd , Allschwil , Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>ac Actelion Pharmaceuticals Ltd , Allschwil </wicri:regionArea><wicri:noRegion>Allschwil </wicri:noRegion></affiliation></author></analytic><series><title level="j">Current medical research and opinion</title><idno type="eISSN">1473-4877</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Humans</term><term>Niemann-Pick Disease, Type C (epidemiology)</term><term>Prevalence</term><term>Rare Diseases (epidemiology)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Humains</term><term>Maladie de Niemann-Pick de type C (épidémiologie)</term><term>Maladies rares (épidémiologie)</term><term>Prévalence</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Niemann-Pick Disease, Type C</term><term>Rare Diseases</term></keywords><keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Maladie de Niemann-Pick de type C</term><term>Maladies rares</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Prevalence</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Humains</term><term>Prévalence</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C. Patients in these at-risk groups ("clinical niches") have symptoms that are potentially related to NP-C, but go unrecognized due to other, more prevalent clinical features, and lack of awareness regarding underlying metabolic causes.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">28276873</PMID><DateCreated><Year>2017</Year><Month>03</Month><Day>09</Day></DateCreated><DateCompleted><Year>2017</Year><Month>05</Month><Day>29</Day></DateCompleted><DateRevised><Year>2017</Year><Month>05</Month><Day>29</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1473-4877</ISSN><JournalIssue CitedMedium="Internet"><Volume>33</Volume><Issue>5</Issue><PubDate><Year>2017</Year><Month>May</Month></PubDate></JournalIssue><Title>Current medical research and opinion</Title><ISOAbbreviation>Curr Med Res Opin</ISOAbbreviation></Journal><ArticleTitle>The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.</ArticleTitle><Pagination><MedlinePgn>877-890</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1080/03007995.2017.1294054</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C. Patients in these at-risk groups ("clinical niches") have symptoms that are potentially related to NP-C, but go unrecognized due to other, more prevalent clinical features, and lack of awareness regarding underlying metabolic causes.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Twelve potential clinical niches identified by clinical experts were evaluated based on a comprehensive, non-systematic review of literature published to date. Relevant publications were identified by targeted literature searches of EMBASE and PubMed using key search terms specific to each niche. Articles published in English or other European languages up to 2016 were included.</AbstractText><AbstractText Label="FINDINGS" NlmCategory="RESULTS">Several niches were found to be relevant based on available data: movement disorders (early-onset ataxia and dystonia), organic psychosis, early-onset cholestasis/(hepato)splenomegaly, cases with relevant antenatal findings or fetal abnormalities, and patients affected by family history, consanguinity, and endogamy. Potentially relevant niches requiring further supportive data included: early-onset cognitive decline, frontotemporal dementia, parkinsonism, and chronic inflammatory CNS disease. There was relatively weak evidence to suggest amyotrophic lateral sclerosis or progressive supranuclear gaze palsy as potential niches.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Several clinical niches have been identified that harbor patients at increased risk of NP-C.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hendriksz</LastName><ForeName>Christian J</ForeName><Initials>CJ</Initials><AffiliationInfo><Affiliation>a Salford Royal NHS Foundation Trust , Manchester , UK.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>b University of Pretoria , Pretoria , South Africa.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Anheim</LastName><ForeName>Mathieu</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>c University of Strasbourg , Hautepierre Hospital , Strasbourg , France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bauer</LastName><ForeName>Peter</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>d Institute of Medical Genetics and Applied Genomics, Tübingen University , Tübingen, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>e CENTOGENE AG , Rostock , Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bonnot</LastName><ForeName>Olivier</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>f CHU and University of Nantes , Nantes , France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chakrapani</LastName><ForeName>Anupam</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>g Great Ormond St Hospital for Children , London , UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Corvol</LastName><ForeName>Jean-Christophe</ForeName><Initials>JC</Initials><AffiliationInfo><Affiliation>h Sorbonne University , UPMC and Hôpital Pitié-Salpêtrière, Department of Nervous System Diseases , Paris , France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de Koning</LastName><ForeName>Tom J</ForeName><Initials>TJ</Initials><AffiliationInfo><Affiliation>i University of Groningen , Groningen , the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Degtyareva</LastName><ForeName>Anna</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>j Federal State Budget Institution, Research Center for Obstetrics , Gynecology and Perinatology , Moscow , Russia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dionisi-Vici</LastName><ForeName>Carlo</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>k Bambino Gesù Children's Hospital , Rome , Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Doss</LastName><ForeName>Sarah</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>l Charite University Medicine Berlin , Department of Neurology , Berlin , Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Duning</LastName><ForeName>Thomas</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>m Münster University Hospital , Münster, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Giunti</LastName><ForeName>Paola</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>n University College London, Institute of Neurology , London , UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Iodice</LastName><ForeName>Rosa</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>o University Federico II Naples , Naples , Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Johnston</LastName><ForeName>Tracy</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>p Birmingham Women's Hospital , Birmingham , UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kelly</LastName><ForeName>Dierdre</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>q Birmingham Children's Hospital , Birmingham , UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Klünemann</LastName><ForeName>Hans-Hermann</ForeName><Initials>HH</Initials><AffiliationInfo><Affiliation>r University Clinic for Psychiatry and Psychotherapy, Regensburg University , Regensburg , Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lorenzl</LastName><ForeName>Stefan</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>s Ludwig Maximillian University , Munich , Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>t Paracelus Medical University , Salzburg , Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Padovani</LastName><ForeName>Alessandro</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>u Neurology Unit, Department of Clinical and Experimental Sciences , University of Brescia , Brescia , Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pocovi</LastName><ForeName>Miguel</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>v University of Zaragoza , IISA, Zaragoza , Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Synofzik</LastName><ForeName>Matthis</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>w Department of Neurodegenerative Diseases , Hertie Institute for Clinical Brain Research , Tübingen, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>x German Center for Neurodegenerative Diseases (DZNE) , Tübingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Terblanche</LastName><ForeName>Alta</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>b University of Pretoria , Pretoria , South Africa.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Then Bergh</LastName><ForeName>Florian</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>y University of Leipzig , Department of Neurology , Leipzig , Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Topçu</LastName><ForeName>Meral</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>z Hacettepe University Children's Hospital , Ankara , Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tranchant</LastName><ForeName>Christine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>aa CHU Strasburg , Strasburg , France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Walterfang</LastName><ForeName>Mark</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>ab Royal Melbourne Hospital , Melbourne , Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Velten</LastName><ForeName>Christian</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>ac Actelion Pharmaceuticals Ltd , Allschwil , Switzerland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kolb</LastName><ForeName>Stefan A</ForeName><Initials>SA</Initials><AffiliationInfo><Affiliation>ac Actelion Pharmaceuticals Ltd , Allschwil , Switzerland.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>03</Month><Day>02</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Curr Med Res Opin</MedlineTA><NlmUniqueID>0351014</NlmUniqueID><ISSNLinking>0300-7995</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D052556" MajorTopicYN="N">Niemann-Pick Disease, Type C</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="Y">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015995" MajorTopicYN="N">Prevalence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D035583" MajorTopicYN="N">Rare Diseases</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="Y">epidemiology</QualifierName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="Y">Clinical niche</Keyword><Keyword MajorTopicYN="Y">Diagnosis</Keyword><Keyword MajorTopicYN="Y">Differential diagnosis</Keyword><Keyword MajorTopicYN="Y">Epidemiology</Keyword><Keyword MajorTopicYN="Y">Inborn errors of metabolism (IEM)</Keyword><Keyword MajorTopicYN="Y">Niemann-Pick disease type C (NP-C)</Keyword><Keyword MajorTopicYN="Y">Screening</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>3</Month><Day>10</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>5</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>3</Month><Day>10</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28276873</ArticleId><ArticleId IdType="doi">10.1080/03007995.2017.1294054</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Afrique du Sud</li><li>Allemagne</li><li>Australie</li><li>Espagne</li><li>France</li><li>Italie</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Russie</li><li>Suisse</li><li>Turquie</li></country><region><li>Angleterre</li><li>Bade-Wurtemberg</li><li>District de Münster</li><li>District de Tübingen</li><li>Grand Londres</li><li>Rhénanie-du-Nord-Westphalie</li></region><settlement><li>Londres</li><li>Münster</li><li>Tübingen</li></settlement><orgName><li>University College de Londres</li></orgName></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Hendriksz, Christian J" sort="Hendriksz, Christian J" uniqKey="Hendriksz C" first="Christian J" last="Hendriksz">Christian J. Hendriksz</name></noRegion><name sortKey="Chakrapani, Anupam" sort="Chakrapani, Anupam" uniqKey="Chakrapani A" first="Anupam" last="Chakrapani">Anupam Chakrapani</name><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name><name sortKey="Johnston, Tracy" sort="Johnston, Tracy" uniqKey="Johnston T" first="Tracy" last="Johnston">Tracy Johnston</name><name sortKey="Kelly, Dierdre" sort="Kelly, Dierdre" uniqKey="Kelly D" first="Dierdre" last="Kelly">Dierdre Kelly</name></country><country name="France"><noRegion><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name></noRegion><name sortKey="Bonnot, Olivier" sort="Bonnot, Olivier" uniqKey="Bonnot O" first="Olivier" last="Bonnot">Olivier Bonnot</name><name sortKey="Corvol, Jean Christophe" sort="Corvol, Jean Christophe" uniqKey="Corvol J" first="Jean-Christophe" last="Corvol">Jean-Christophe Corvol</name><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name></country><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name></region><name sortKey="Doss, Sarah" sort="Doss, Sarah" uniqKey="Doss S" first="Sarah" last="Doss">Sarah Doss</name><name sortKey="Duning, Thomas" sort="Duning, Thomas" uniqKey="Duning T" first="Thomas" last="Duning">Thomas Duning</name><name sortKey="Klunemann, Hans Hermann" sort="Klunemann, Hans Hermann" uniqKey="Klunemann H" first="Hans-Hermann" last="Klünemann">Hans-Hermann Klünemann</name><name sortKey="Lorenzl, Stefan" sort="Lorenzl, Stefan" uniqKey="Lorenzl S" first="Stefan" last="Lorenzl">Stefan Lorenzl</name><name sortKey="Synofzik, Matthis" sort="Synofzik, Matthis" uniqKey="Synofzik M" first="Matthis" last="Synofzik">Matthis Synofzik</name><name sortKey="Then Bergh, Florian" sort="Then Bergh, Florian" uniqKey="Then Bergh F" first="Florian" last="Then Bergh">Florian Then Bergh</name></country><country name="Pays-Bas"><noRegion><name sortKey="De Koning, Tom J" sort="De Koning, Tom J" uniqKey="De Koning T" first="Tom J" last="De Koning">Tom J. De Koning</name></noRegion></country><country name="Russie"><noRegion><name sortKey="Degtyareva, Anna" sort="Degtyareva, Anna" uniqKey="Degtyareva A" first="Anna" last="Degtyareva">Anna Degtyareva</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Dionisi Vici, Carlo" sort="Dionisi Vici, Carlo" uniqKey="Dionisi Vici C" first="Carlo" last="Dionisi-Vici">Carlo Dionisi-Vici</name></noRegion><name sortKey="Iodice, Rosa" sort="Iodice, Rosa" uniqKey="Iodice R" first="Rosa" last="Iodice">Rosa Iodice</name><name sortKey="Padovani, Alessandro" sort="Padovani, Alessandro" uniqKey="Padovani A" first="Alessandro" last="Padovani">Alessandro Padovani</name></country><country name="Espagne"><noRegion><name sortKey="Pocovi, Miguel" sort="Pocovi, Miguel" uniqKey="Pocovi M" first="Miguel" last="Pocovi">Miguel Pocovi</name></noRegion></country><country name="Afrique du Sud"><noRegion><name sortKey="Terblanche, Alta" sort="Terblanche, Alta" uniqKey="Terblanche A" first="Alta" last="Terblanche">Alta Terblanche</name></noRegion></country><country name="Turquie"><noRegion><name sortKey="Topcu, Meral" sort="Topcu, Meral" uniqKey="Topcu M" first="Meral" last="Topçu">Meral Topçu</name></noRegion></country><country name="Australie"><noRegion><name sortKey="Walterfang, Mark" sort="Walterfang, Mark" uniqKey="Walterfang M" first="Mark" last="Walterfang">Mark Walterfang</name></noRegion></country><country name="Suisse"><noRegion><name sortKey="Velten, Christian" sort="Velten, Christian" uniqKey="Velten C" first="Christian" last="Velten">Christian Velten</name></noRegion><name sortKey="Kolb, Stefan A" sort="Kolb, Stefan A" uniqKey="Kolb S" first="Stefan A" last="Kolb">Stefan A. 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HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/RBID.i -Sk "pubmed:28276873" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |