I-cell disease with GNPTAB gene mutation

Bhat Y. Ramesh; Tangirala Susmitha; Lewis Leslie; Purkayastha Jayashree

doi:10.22038/ijp.2017.25197.2137

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

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	6261-6265
Number of pages	5
Journal	International Journal of Pediatrics
Volume	5
Issue number	12
DOIs	https://doi.org/10.22038/ijp.2017.25197.2137
Publication status	Published - 01-12-2017

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health

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10.22038/ijp.2017.25197.2137

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abstract = "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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AU - Ramesh, Bhat Y.

AU - Susmitha, Tangirala

AU - Leslie, Lewis

AU - Jayashree, Purkayastha

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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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M3 - Article

AN - SCOPUS:85037331975

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SN - 2345-5055

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JO - International Journal of Pediatrics

JF - International Journal of Pediatrics

IS - 12

ER -

I-cell disease with GNPTAB gene mutation

Abstract

All Science Journal Classification (ASJC) codes

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