Article
Early diagnostic clues of mucolipidosis type II: Significance of radiological findings.
American journal of medical genetics. Part A - 1 Jun 2024
Burgac Ezgi, Kaplan İrem, Köseci Burcu, Kara Esra, Kor Deniz, Bulut Fatma Derya, Atmış Anıl, Pişkin Ferhatcan, Tuğ Bozdoğan Sevcan, Urel Demir Gizem, İncecik Faruk, Önenli Mungan Neslihan
Abstract excerpt
Mucolipidosis type-II (ML-II) is an ultra-rare disorder caused by deficiency of N-acetylglucosaminyl-1-phosphotransferase enzyme due to biallelic pathogenic variants in GNPTAB gene. There are a few known about the natural history of ML-II. In this study, we presented the natural course of 24 patients diagnosed with ML-II. Mean age at diagnosis was 9.3 ± 5.7 months. All patients had coarse face, developmental...
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