Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family-Reference-Cited by-同舟云学术

Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family

Published:2019-12 Issue: Volume:21 Page:100532
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Cullufi P.,Tabaku M.,Beetz C.,Tomori S.,Velmishi V.,Gjikopulli A.,Bauer P.,Wirth S.,Rolfs A.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

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4. Glucosylsphingosine (Lyso-Gb1) as a biomarker for monitoring treated and untreated children with Gaucher disease;Hurvitz;Int. J. Mol. Sci.,2019

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