LymphedemaV1, Main, Exploration, bibRecord, 000847

A novel mutation and in vivo confocal microscopic findings in Fabry disease

Identifieur interne : 000847 ( Main/Exploration ); précédent : 000846; suivant : 000848

A 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.

RBID : PMC:5352937

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:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352937

DOI: 10.1016/j.sjopt.2016.12.005
PubMed: 28337063
PubMed Central: 5352937

Affiliations:

Turquie

Le 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>
<idno type="wicri:Area/Ncbi/Checkpoint">008E96</idno>
<idno type="wicri:doubleKey">1319-4534:2017:Degirmenci C:a:novel:mutation</idno>
<idno type="wicri:Area/Main/Merge">000848</idno>
<idno type="wicri:Area/Main/Curation">000847</idno>
<idno type="wicri:Area/Main/Exploration">000847</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>
<affiliations><list><country><li>Turquie</li>
</country>
</list>
<tree><country name="Turquie"><noRegion><name sortKey="Degirmenci, Cumali" sort="Degirmenci, Cumali" uniqKey="Degirmenci C" first="Cumali" last="Degirmenci">Cumali Degirmenci</name>
</noRegion>
<name sortKey="Coker, Mahmut" sort="Coker, Mahmut" uniqKey="Coker M" first="Mahmut" last="Coker">Mahmut Coker</name>
<name sortKey="Kayikcioglu, Meral" sort="Kayikcioglu, Meral" uniqKey="Kayikcioglu M" first="Meral" last="Kayikcioglu">Meral Kayikcioglu</name>
<name sortKey="Onay, Huseyin" sort="Onay, Huseyin" uniqKey="Onay H" first="Huseyin" last="Onay">Huseyin Onay</name>
<name sortKey="Palamar, Melis" sort="Palamar, Melis" uniqKey="Palamar M" first="Melis" last="Palamar">Melis Palamar</name>
<name sortKey="Ucar, Sema Kalkan" sort="Ucar, Sema Kalkan" uniqKey="Ucar S" first="Sema Kalkan" last="Ucar">Sema Kalkan Ucar</name>
<name sortKey="Yilmaz, Suzan Guven" sort="Yilmaz, Suzan Guven" uniqKey="Yilmaz S" first="Suzan Guven" last="Yilmaz">Suzan Guven Yilmaz</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000847 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000847 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |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/Main/Exploration/RBID.i   -Sk "pubmed:28337063" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

A novel mutation and in vivo confocal microscopic findings in Fabry disease

A novel mutation and in vivo confocal microscopic findings in Fabry disease

Source :

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.