Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
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The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation.Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.Epidemiology of mucopolysaccharidoses.Lysosomal Storage Disorders in Egyptian Children.Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders.Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.Gaucher disease
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P2860
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 13 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Burden of lysosomal storage di ...... a single diagnostic facility.
@en
Burden of lysosomal storage di ...... a single diagnostic facility.
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type
label
Burden of lysosomal storage di ...... a single diagnostic facility.
@en
Burden of lysosomal storage di ...... a single diagnostic facility.
@nl
prefLabel
Burden of lysosomal storage di ...... a single diagnostic facility.
@en
Burden of lysosomal storage di ...... a single diagnostic facility.
@nl
P2093
P2860
P356
P1476
Burden of lysosomal storage di ...... a single diagnostic facility.
@en
P2093
Ashish Bavdekar
Chaitanya Datar
Chitra Ankleshwaria
Frenny Sheth
Jayesh Sheth
Koumudi Godbole
Mahesh Kamate
Marie Jackson
Mehul Mistri
Nidhish Nanavaty
P2860
P356
10.1007/8904_2013_244
P577
2013-07-13T00:00:00Z