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I-cell disease with GNPTAB gene mutation
Bhat Y. Ramesh
*
, Tangirala Susmitha
, Lewis Leslie
,
Purkayastha Jayashree
*
Corresponding author for this work
Department of Paediatrics, Kasturba Medical College, Manipal
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Medicine and Dentistry
Disease
100%
Transferase
100%
Gene Mutation
100%
N Acetylglucosamine
100%
Cell Inclusion
100%
Beta Chain
100%
Phosphate
100%
Alpha Chain
100%
Clinical Feature
33%
Water-Electrolyte Imbalance
33%
Phosphotransferase
33%
Skeleton Malformation
33%
Neonates
33%
Hurler Syndrome
33%
Coarse Facial Features
33%
Mucolipidosis
33%
INIS
diseases
100%
phosphates
100%
inclusions
100%
transferases
100%
gene mutations
100%
nervous system diseases
25%
mutations
25%
mimic
25%
neonates
25%
phosphotransferases
25%
Pharmacology, Toxicology and Pharmaceutical Science
Phosphate
100%
N Acetylglucosamine
100%
Disease
100%
Transferase
100%
Phosphotransferase
33%
Clinical Feature
33%
Metabolic Disorder
33%
Skeleton Malformation
33%
Mucolipidosis
33%
Hurler Syndrome
33%