The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Identifieur interne : 000C40 ( PubMed/Corpus ); précédent : 000C39; suivant : 000C41The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Auteurs : Christian J. Hendriksz ; Mathieu Anheim ; Peter Bauer ; Olivier Bonnot ; Anupam Chakrapani ; Jean-Christophe Corvol ; Tom J. De Koning ; Anna Degtyareva ; Carlo Dionisi-Vici ; Sarah Doss ; Thomas Duning ; Paola Giunti ; Rosa Iodice ; Tracy Johnston ; Dierdre Kelly ; Hans-Hermann Klünemann ; Stefan Lorenzl ; Alessandro Padovani ; Miguel Pocovi ; Matthis Synofzik ; Alta Terblanche ; Florian Then Bergh ; Meral Topçu ; Christine Tranchant ; Mark Walterfang ; Christian Velten ; Stefan A. KolbSource :
- Current medical research and opinion [ 1473-4877 ] ; 2017.
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
Links to Exploration step
pubmed:28276873Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><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><nlm:affiliation>a Salford Royal NHS Foundation Trust , Manchester , UK.</nlm:affiliation></affiliation></author><author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><affiliation><nlm:affiliation>c University of Strasbourg , Hautepierre Hospital , Strasbourg , France.</nlm:affiliation></affiliation></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><affiliation><nlm:affiliation>d Institute of Medical Genetics and Applied Genomics, Tübingen University , Tübingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Bonnot, Olivier" sort="Bonnot, Olivier" uniqKey="Bonnot O" first="Olivier" last="Bonnot">Olivier Bonnot</name><affiliation><nlm:affiliation>f CHU and University of Nantes , Nantes , France.</nlm:affiliation></affiliation></author><author><name sortKey="Chakrapani, Anupam" sort="Chakrapani, Anupam" uniqKey="Chakrapani A" first="Anupam" last="Chakrapani">Anupam Chakrapani</name><affiliation><nlm:affiliation>g Great Ormond St Hospital for Children , London , UK.</nlm:affiliation></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><nlm:affiliation>h Sorbonne University , UPMC and Hôpital Pitié-Salpêtrière, Department of Nervous System Diseases , Paris , France.</nlm:affiliation></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><nlm:affiliation>i University of Groningen , Groningen , the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Degtyareva, Anna" sort="Degtyareva, Anna" uniqKey="Degtyareva A" first="Anna" last="Degtyareva">Anna Degtyareva</name><affiliation><nlm:affiliation>j Federal State Budget Institution, Research Center for Obstetrics , Gynecology and Perinatology , Moscow , Russia.</nlm:affiliation></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><nlm:affiliation>k Bambino Gesù Children's Hospital , Rome , Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Doss, Sarah" sort="Doss, Sarah" uniqKey="Doss S" first="Sarah" last="Doss">Sarah Doss</name><affiliation><nlm:affiliation>l Charite University Medicine Berlin , Department of Neurology , Berlin , Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Duning, Thomas" sort="Duning, Thomas" uniqKey="Duning T" first="Thomas" last="Duning">Thomas Duning</name><affiliation><nlm:affiliation>m Münster University Hospital , Münster, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name><affiliation><nlm:affiliation>n University College London, Institute of Neurology , London , UK.</nlm:affiliation></affiliation></author><author><name sortKey="Iodice, Rosa" sort="Iodice, Rosa" uniqKey="Iodice R" first="Rosa" last="Iodice">Rosa Iodice</name><affiliation><nlm:affiliation>o University Federico II Naples , Naples , Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Johnston, Tracy" sort="Johnston, Tracy" uniqKey="Johnston T" first="Tracy" last="Johnston">Tracy Johnston</name><affiliation><nlm:affiliation>p Birmingham Women's Hospital , Birmingham , UK.</nlm:affiliation></affiliation></author><author><name sortKey="Kelly, Dierdre" sort="Kelly, Dierdre" uniqKey="Kelly D" first="Dierdre" last="Kelly">Dierdre Kelly</name><affiliation><nlm:affiliation>q Birmingham Children's Hospital , Birmingham , UK.</nlm:affiliation></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><nlm:affiliation>r University Clinic for Psychiatry and Psychotherapy, Regensburg University , Regensburg , Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Lorenzl, Stefan" sort="Lorenzl, Stefan" uniqKey="Lorenzl S" first="Stefan" last="Lorenzl">Stefan Lorenzl</name><affiliation><nlm:affiliation>s Ludwig Maximillian University , Munich , Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Padovani, Alessandro" sort="Padovani, Alessandro" uniqKey="Padovani A" first="Alessandro" last="Padovani">Alessandro Padovani</name><affiliation><nlm:affiliation>u Neurology Unit, Department of Clinical and Experimental Sciences , University of Brescia , Brescia , Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Pocovi, Miguel" sort="Pocovi, Miguel" uniqKey="Pocovi M" first="Miguel" last="Pocovi">Miguel Pocovi</name><affiliation><nlm:affiliation>v University of Zaragoza , IISA, Zaragoza , Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Synofzik, Matthis" sort="Synofzik, Matthis" uniqKey="Synofzik M" first="Matthis" last="Synofzik">Matthis Synofzik</name><affiliation><nlm:affiliation>w Department of Neurodegenerative Diseases , Hertie Institute for Clinical Brain Research , Tübingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Terblanche, Alta" sort="Terblanche, Alta" uniqKey="Terblanche A" first="Alta" last="Terblanche">Alta Terblanche</name><affiliation><nlm:affiliation>b University of Pretoria , Pretoria , South Africa.</nlm:affiliation></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><nlm:affiliation>y University of Leipzig , Department of Neurology , Leipzig , Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Topcu, Meral" sort="Topcu, Meral" uniqKey="Topcu M" first="Meral" last="Topçu">Meral Topçu</name><affiliation><nlm:affiliation>z Hacettepe University Children's Hospital , Ankara , Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name><affiliation><nlm:affiliation>aa CHU Strasburg , Strasburg , France.</nlm:affiliation></affiliation></author><author><name sortKey="Walterfang, Mark" sort="Walterfang, Mark" uniqKey="Walterfang M" first="Mark" last="Walterfang">Mark Walterfang</name><affiliation><nlm:affiliation>ab Royal Melbourne Hospital , Melbourne , Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Velten, Christian" sort="Velten, Christian" uniqKey="Velten C" first="Christian" last="Velten">Christian Velten</name><affiliation><nlm:affiliation>ac Actelion Pharmaceuticals Ltd , Allschwil , Switzerland.</nlm:affiliation></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><nlm:affiliation>ac Actelion Pharmaceuticals Ltd , Allschwil , Switzerland.</nlm:affiliation></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></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><nlm:affiliation>a Salford Royal NHS Foundation Trust , Manchester , UK.</nlm:affiliation></affiliation></author><author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><affiliation><nlm:affiliation>c University of Strasbourg , Hautepierre Hospital , Strasbourg , France.</nlm:affiliation></affiliation></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><affiliation><nlm:affiliation>d Institute of Medical Genetics and Applied Genomics, Tübingen University , Tübingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Bonnot, Olivier" sort="Bonnot, Olivier" uniqKey="Bonnot O" first="Olivier" last="Bonnot">Olivier Bonnot</name><affiliation><nlm:affiliation>f CHU and University of Nantes , Nantes , France.</nlm:affiliation></affiliation></author><author><name sortKey="Chakrapani, Anupam" sort="Chakrapani, Anupam" uniqKey="Chakrapani A" first="Anupam" last="Chakrapani">Anupam Chakrapani</name><affiliation><nlm:affiliation>g Great Ormond St Hospital for Children , London , UK.</nlm:affiliation></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><nlm:affiliation>h Sorbonne University , UPMC and Hôpital Pitié-Salpêtrière, Department of Nervous System Diseases , Paris , France.</nlm:affiliation></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><nlm:affiliation>i University of Groningen , Groningen , the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Degtyareva, Anna" sort="Degtyareva, Anna" uniqKey="Degtyareva A" first="Anna" last="Degtyareva">Anna Degtyareva</name><affiliation><nlm:affiliation>j Federal State Budget Institution, Research Center for Obstetrics , Gynecology and Perinatology , Moscow , Russia.</nlm:affiliation></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><nlm:affiliation>k Bambino Gesù Children's Hospital , Rome , Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Doss, Sarah" sort="Doss, Sarah" uniqKey="Doss S" first="Sarah" last="Doss">Sarah Doss</name><affiliation><nlm:affiliation>l Charite University Medicine Berlin , Department of Neurology , Berlin , Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Duning, Thomas" sort="Duning, Thomas" uniqKey="Duning T" first="Thomas" last="Duning">Thomas Duning</name><affiliation><nlm:affiliation>m Münster University Hospital , Münster, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name><affiliation><nlm:affiliation>n University College London, Institute of Neurology , London , UK.</nlm:affiliation></affiliation></author><author><name sortKey="Iodice, Rosa" sort="Iodice, Rosa" uniqKey="Iodice R" first="Rosa" last="Iodice">Rosa Iodice</name><affiliation><nlm:affiliation>o University Federico II Naples , Naples , Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Johnston, Tracy" sort="Johnston, Tracy" uniqKey="Johnston T" first="Tracy" last="Johnston">Tracy Johnston</name><affiliation><nlm:affiliation>p Birmingham Women's Hospital , Birmingham , UK.</nlm:affiliation></affiliation></author><author><name sortKey="Kelly, Dierdre" sort="Kelly, Dierdre" uniqKey="Kelly D" first="Dierdre" last="Kelly">Dierdre Kelly</name><affiliation><nlm:affiliation>q Birmingham Children's Hospital , Birmingham , UK.</nlm:affiliation></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><nlm:affiliation>r University Clinic for Psychiatry and Psychotherapy, Regensburg University , Regensburg , Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Lorenzl, Stefan" sort="Lorenzl, Stefan" uniqKey="Lorenzl S" first="Stefan" last="Lorenzl">Stefan Lorenzl</name><affiliation><nlm:affiliation>s Ludwig Maximillian University , Munich , Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Padovani, Alessandro" sort="Padovani, Alessandro" uniqKey="Padovani A" first="Alessandro" last="Padovani">Alessandro Padovani</name><affiliation><nlm:affiliation>u Neurology Unit, Department of Clinical and Experimental Sciences , University of Brescia , Brescia , Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Pocovi, Miguel" sort="Pocovi, Miguel" uniqKey="Pocovi M" first="Miguel" last="Pocovi">Miguel Pocovi</name><affiliation><nlm:affiliation>v University of Zaragoza , IISA, Zaragoza , Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Synofzik, Matthis" sort="Synofzik, Matthis" uniqKey="Synofzik M" first="Matthis" last="Synofzik">Matthis Synofzik</name><affiliation><nlm:affiliation>w Department of Neurodegenerative Diseases , Hertie Institute for Clinical Brain Research , Tübingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Terblanche, Alta" sort="Terblanche, Alta" uniqKey="Terblanche A" first="Alta" last="Terblanche">Alta Terblanche</name><affiliation><nlm:affiliation>b University of Pretoria , Pretoria , South Africa.</nlm:affiliation></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><nlm:affiliation>y University of Leipzig , Department of Neurology , Leipzig , Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Topcu, Meral" sort="Topcu, Meral" uniqKey="Topcu M" first="Meral" last="Topçu">Meral Topçu</name><affiliation><nlm:affiliation>z Hacettepe University Children's Hospital , Ankara , Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name><affiliation><nlm:affiliation>aa CHU Strasburg , Strasburg , France.</nlm:affiliation></affiliation></author><author><name sortKey="Walterfang, Mark" sort="Walterfang, Mark" uniqKey="Walterfang M" first="Mark" last="Walterfang">Mark Walterfang</name><affiliation><nlm:affiliation>ab Royal Melbourne Hospital , Melbourne , Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Velten, Christian" sort="Velten, Christian" uniqKey="Velten C" first="Christian" last="Velten">Christian Velten</name><affiliation><nlm:affiliation>ac Actelion Pharmaceuticals Ltd , Allschwil , Switzerland.</nlm:affiliation></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><nlm:affiliation>ac Actelion Pharmaceuticals Ltd , Allschwil , Switzerland.</nlm:affiliation></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="MESH" qualifier="epidemiology" xml:lang="en"><term>Niemann-Pick Disease, Type C</term><term>Rare Diseases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Prevalence</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></record>Pour manipuler ce document sous Unix (Dilib)
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