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Article

Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family.

Journal of pediatric endocrinology & metabolism : JPEM - 26 May 2020

Khan Muhammad Aman, Zubaida Bibi, Karim Noreen, Cheema Huma Arshad, Naeem Muhammad

Abstract excerpt

Background Mucolipidosis II is a rare inherited metabolic disorder characterized by multiple pathologies including coarse facial features, thickened skin, dysostosis multiplex, and skeletal abnormalities. The disorder results due to variants in GNPTAB leading to reduced activity of the enzyme GlcNAc-1-phosphotransferase (GlcNAc-PT). Methods In the present study, a consanguineous Pakistani family was diagnosed...

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PMID: 32238606
DOI: 10.1515/jpem-2019-0426

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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