Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1

INTRODUCTION: Gaucher disease (GD) type 1 is a lysosomal disease characterised by hepatosplenomegaly, anemia, thrombocytopenia, bone changes, and bone marrow infiltration. The disease is caused by biallelic pathogenic variants in GBA1 which codes for glucocerebrosidase, an enzyme involved in the cat...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Metab Rep
Päätekijät: d'Avila Paskulin, Livia, Starosta, Rodrigo Tzovenos, Zizemer, Vitória Schütt, Basgalupp, Suélen, Bertholdo, Débora, Vairo, Filippo Pinto e, Siebert, Marina, Michelin-Tirelli, Kristiane, Schwartz, Ida Vanessa Doederlein
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2019
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6881662/
https://ncbi.nlm.nih.gov/pubmed/31799121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100544
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