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Article

Mucolipidosis II: first report from Saudi Arabia.

Annals of Saudi medicine - 1 Jan 2000

Alfadhel Majid, AlShehhi Wafaa, Alshaalan Hesham, Al Balwi Mohammed, Eyaid Wafaa, Eyaida Wafaa

Abstract excerpt

BACKGROUND AND OBJECTIVES: Mucolipidosis II (MLII) is characterized by severe global developmental delay, coarse facial features, skeletal deformities, and other systemic involvement. It is caused by a deficiency in N-acetylglucosamine-1 phosphotransferase. DESIGN AND SETTINGS: This is a case series study conducted at King Abdulaziz Medical City in Riyadh, Saudi Arabia, between 2008-2012. PATIENTS AND METHODS: We...

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Identifiers

PMID: 24060719
DOI: 10.5144/0256-4947.2013.382
PMCID: PMC6078501

Genes

GNPTAB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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