TY - JOUR
T1 - I-cell disease with GNPTAB gene mutation
AU - Ramesh, Bhat Y.
AU - Susmitha, Tangirala
AU - Leslie, Lewis
AU - Jayashree, Purkayastha
PY - 2017/12/1
Y1 - 2017/12/1
N2 - Inclusion-cell (I-cell) disease (mucolipidosis II) is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical feature of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with N-acetylglucosamine-1-phosphate transferase alpha and beta subunits (GNPTAB) gene mutation.
AB - Inclusion-cell (I-cell) disease (mucolipidosis II) is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical feature of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with N-acetylglucosamine-1-phosphate transferase alpha and beta subunits (GNPTAB) gene mutation.
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U2 - 10.22038/ijp.2017.25197.2137
DO - 10.22038/ijp.2017.25197.2137
M3 - Article
AN - SCOPUS:85037331975
SN - 1687-9740
VL - 5
SP - 6261
EP - 6265
JO - International Journal of Pediatrics (United Kingdom)
JF - International Journal of Pediatrics (United Kingdom)
IS - 12
ER -