GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
about
Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders.
P2860
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
description
2016 nî lūn-bûn
@nan
2016 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
name
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
@ast
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
@en
type
label
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
@ast
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
@en
prefLabel
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
@ast
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
@en
P2093
P2860
P31
P921
P1433
P1476
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
@en
P2093
Chaitanya Datar
Frenny Sheth
Krati Shah
Mehul Mistri
Riddhi Bhavsar
P2860
P2888
P356
10.1186/S12887-016-0626-6
P50
P5008
P577
2016-07-11T00:00:00Z
P6179
1018138585