The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Identifieur interne : 000209 ( Main/Exploration ); précédent : 000208; suivant : 000210The 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
Affiliations:
- Afrique du Sud, Allemagne, Australie, Espagne, France, Italie, Pays-Bas, Royaume-Uni, Russie, Suisse, Turquie
- Angleterre, Bade-Wurtemberg, District de Münster, District de Tübingen, Grand Londres, Rhénanie-du-Nord-Westphalie
- Londres, Münster, Tübingen
- University College de Londres
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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><idno type="wicri:Area/Ncbi/Curation">004443</idno><idno type="wicri:Area/Ncbi/Checkpoint">004443</idno><idno type="wicri:Area/Main/Merge">000204</idno><idno type="wicri:Area/Main/Curation">000209</idno><idno type="wicri:Area/Main/Exploration">000209</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><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. Kolb</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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