Genetic characterization of the Albanian Gaucher disease patient population

Gaucher disease (GD) is a recessive metabolic disorder caused by a deficiency of the GBA gene‐encoded enzyme β‐glucocerebrosidase. We characterized a cohort of 36 Albanian GD patients, 31 with GD type 1 and 5 affected by GD types 2, 3, and an intermediate GD phenotype between type 2 and type 3. Of t...

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Vydáno v:JIMD Rep
Hlavní autoři: Cullufi, Paskal, Tabaku, Mirela, Velmishi, Virtut, Gjikopulli, Agim, Tomori, Sonila, Dervishi, Ermira, Tako, Aferdita, Leubauer, Anika, Westenberger, Ana, Cozma, Claudia, Beetz, Christian, Bauer, Peter, Wirth, Stefan, Rolfs, Arndt
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley & Sons, Inc. 2020
Témata:
Research Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7802630/
https://ncbi.nlm.nih.gov/pubmed/33473340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12167
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