Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy)
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference11 articles.
1. Radiometric assays of N-acetylglucosaminylphosphotransferase and α-N-acetylglucosaminyl phosphodiesterase with substrates labeled in the glucosamine moiety
2. An atypical form of mucolipidosis III.
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2. Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II;Acta Pharmacologica Sinica;2018-06-05
3. Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease;Pediatric Rheumatology;2017-09-26
4. Mucolipidosis 3;Atlas of Genetic Diagnosis and Counseling;2017
5. Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?;American Journal of Medical Genetics Part A;2016-01-08
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