A novel mutation and in vivo confocal microscopic findings in Fabry disease
Identifieur interne : 008E96 ( Ncbi/Curation ); précédent : 008E95; suivant : 008E97A novel mutation and in vivo confocal microscopic findings in Fabry disease
Auteurs : Cumali Degirmenci [Turquie] ; Suzan Guven Yilmaz [Turquie] ; Huseyin Onay [Turquie] ; Melis Palamar [Turquie] ; Sema Kalkan Ucar [Turquie] ; Meral Kayikcioglu [Turquie] ; Mahmut Coker [Turquie]Source :
- Saudi Journal of Ophthalmology [ 1319-4534 ] ; 2017.
Abstract
Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme. Globotriaosylceramide accumulates in tissues and results in multiorgan dysfunction. The most common ocular finding in Fabry disease is cornea verticillata. Increase in conjunctival vascular tortuosity, and cataract may also be seen. Herein, we demonstrate the in vivo confocal microscopic findings of a genetically proven Fabry disease patient with a novel hemizygous R112L mutation in GLA gene.
Url:
DOI: 10.1016/j.sjopt.2016.12.005
PubMed: 28337063
PubMed Central: 5352937
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001E91
- to stream Pmc, to step Curation: Pour aller vers cette notice dans l'étape Curation :001E90
- to stream Pmc, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000434
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :008E96
Links to Exploration step
PMC:5352937Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A novel mutation and in vivo confocal microscopic findings in Fabry disease</title>
<author><name sortKey="Degirmenci, Cumali" sort="Degirmenci, Cumali" uniqKey="Degirmenci C" first="Cumali" last="Degirmenci">Cumali Degirmenci</name>
<affiliation wicri:level="1"><nlm:aff id="af005">Ege University Faculty of Medicine, Department of Ophthalmology, Izmir, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ege University Faculty of Medicine, Department of Ophthalmology, Izmir</wicri:regionArea>
<wicri:noRegion>Izmir</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Yilmaz, Suzan Guven" sort="Yilmaz, Suzan Guven" uniqKey="Yilmaz S" first="Suzan Guven" last="Yilmaz">Suzan Guven Yilmaz</name>
<affiliation wicri:level="1"><nlm:aff id="af005">Ege University Faculty of Medicine, Department of Ophthalmology, Izmir, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ege University Faculty of Medicine, Department of Ophthalmology, Izmir</wicri:regionArea>
<wicri:noRegion>Izmir</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Onay, Huseyin" sort="Onay, Huseyin" uniqKey="Onay H" first="Huseyin" last="Onay">Huseyin Onay</name>
<affiliation wicri:level="1"><nlm:aff id="af010">Ege University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ege University Faculty of Medicine, Department of Medical Genetics, Izmir</wicri:regionArea>
<wicri:noRegion>Izmir</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Palamar, Melis" sort="Palamar, Melis" uniqKey="Palamar M" first="Melis" last="Palamar">Melis Palamar</name>
<affiliation wicri:level="1"><nlm:aff id="af005">Ege University Faculty of Medicine, Department of Ophthalmology, Izmir, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ege University Faculty of Medicine, Department of Ophthalmology, Izmir</wicri:regionArea>
<wicri:noRegion>Izmir</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ucar, Sema Kalkan" sort="Ucar, Sema Kalkan" uniqKey="Ucar S" first="Sema Kalkan" last="Ucar">Sema Kalkan Ucar</name>
<affiliation wicri:level="1"><nlm:aff id="af015">Ege University Faculty of Medicine, Department of Paediatrics, Division of Metabolism and Nutrition, Izmir, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ege University Faculty of Medicine, Department of Paediatrics, Division of Metabolism and Nutrition, Izmir</wicri:regionArea>
<wicri:noRegion>Izmir</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kayikcioglu, Meral" sort="Kayikcioglu, Meral" uniqKey="Kayikcioglu M" first="Meral" last="Kayikcioglu">Meral Kayikcioglu</name>
<affiliation wicri:level="1"><nlm:aff id="af020">Ege University Faculty of Medicine, Department of Cardiology, Izmir, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ege University Faculty of Medicine, Department of Cardiology, Izmir</wicri:regionArea>
<wicri:noRegion>Izmir</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Coker, Mahmut" sort="Coker, Mahmut" uniqKey="Coker M" first="Mahmut" last="Coker">Mahmut Coker</name>
<affiliation wicri:level="1"><nlm:aff id="af015">Ege University Faculty of Medicine, Department of Paediatrics, Division of Metabolism and Nutrition, Izmir, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ege University Faculty of Medicine, Department of Paediatrics, Division of Metabolism and Nutrition, Izmir</wicri:regionArea>
<wicri:noRegion>Izmir</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">28337063</idno>
<idno type="pmc">5352937</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352937</idno>
<idno type="RBID">PMC:5352937</idno>
<idno type="doi">10.1016/j.sjopt.2016.12.005</idno>
<date when="2017">2017</date>
<idno type="wicri:Area/Pmc/Corpus">001E91</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E91</idno>
<idno type="wicri:Area/Pmc/Curation">001E90</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001E90</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000434</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000434</idno>
<idno type="wicri:Area/Ncbi/Merge">008E96</idno>
<idno type="wicri:Area/Ncbi/Curation">008E96</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A novel mutation and in vivo confocal microscopic findings in Fabry disease</title>
<author><name sortKey="Degirmenci, Cumali" sort="Degirmenci, Cumali" uniqKey="Degirmenci C" first="Cumali" last="Degirmenci">Cumali Degirmenci</name>
<affiliation wicri:level="1"><nlm:aff id="af005">Ege University Faculty of Medicine, Department of Ophthalmology, Izmir, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ege University Faculty of Medicine, Department of Ophthalmology, Izmir</wicri:regionArea>
<wicri:noRegion>Izmir</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Yilmaz, Suzan Guven" sort="Yilmaz, Suzan Guven" uniqKey="Yilmaz S" first="Suzan Guven" last="Yilmaz">Suzan Guven Yilmaz</name>
<affiliation wicri:level="1"><nlm:aff id="af005">Ege University Faculty of Medicine, Department of Ophthalmology, Izmir, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ege University Faculty of Medicine, Department of Ophthalmology, Izmir</wicri:regionArea>
<wicri:noRegion>Izmir</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Onay, Huseyin" sort="Onay, Huseyin" uniqKey="Onay H" first="Huseyin" last="Onay">Huseyin Onay</name>
<affiliation wicri:level="1"><nlm:aff id="af010">Ege University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ege University Faculty of Medicine, Department of Medical Genetics, Izmir</wicri:regionArea>
<wicri:noRegion>Izmir</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Palamar, Melis" sort="Palamar, Melis" uniqKey="Palamar M" first="Melis" last="Palamar">Melis Palamar</name>
<affiliation wicri:level="1"><nlm:aff id="af005">Ege University Faculty of Medicine, Department of Ophthalmology, Izmir, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ege University Faculty of Medicine, Department of Ophthalmology, Izmir</wicri:regionArea>
<wicri:noRegion>Izmir</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ucar, Sema Kalkan" sort="Ucar, Sema Kalkan" uniqKey="Ucar S" first="Sema Kalkan" last="Ucar">Sema Kalkan Ucar</name>
<affiliation wicri:level="1"><nlm:aff id="af015">Ege University Faculty of Medicine, Department of Paediatrics, Division of Metabolism and Nutrition, Izmir, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ege University Faculty of Medicine, Department of Paediatrics, Division of Metabolism and Nutrition, Izmir</wicri:regionArea>
<wicri:noRegion>Izmir</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kayikcioglu, Meral" sort="Kayikcioglu, Meral" uniqKey="Kayikcioglu M" first="Meral" last="Kayikcioglu">Meral Kayikcioglu</name>
<affiliation wicri:level="1"><nlm:aff id="af020">Ege University Faculty of Medicine, Department of Cardiology, Izmir, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ege University Faculty of Medicine, Department of Cardiology, Izmir</wicri:regionArea>
<wicri:noRegion>Izmir</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Coker, Mahmut" sort="Coker, Mahmut" uniqKey="Coker M" first="Mahmut" last="Coker">Mahmut Coker</name>
<affiliation wicri:level="1"><nlm:aff id="af015">Ege University Faculty of Medicine, Department of Paediatrics, Division of Metabolism and Nutrition, Izmir, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ege University Faculty of Medicine, Department of Paediatrics, Division of Metabolism and Nutrition, Izmir</wicri:regionArea>
<wicri:noRegion>Izmir</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Saudi Journal of Ophthalmology</title>
<idno type="ISSN">1319-4534</idno>
<imprint><date when="2017">2017</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme. Globotriaosylceramide accumulates in tissues and results in multiorgan dysfunction. The most common ocular finding in Fabry disease is cornea verticillata. Increase in conjunctival vascular tortuosity, and cataract may also be seen. Herein, we demonstrate the in vivo confocal microscopic findings of a genetically proven Fabry disease patient with a novel hemizygous R112L mutation in GLA gene.</p>
</div>
</front>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 008E96 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 008E96 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Ncbi |étape= Curation |type= RBID |clé= PMC:5352937 |texte= A novel mutation and in vivo confocal microscopic findings in Fabry disease }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:28337063" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
![]() | This area was generated with Dilib version V0.6.31. | ![]() |