Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients-Reference-Cited by-同舟云学术

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients

Published:2019-01 Issue:1 Volume:28 Page:7-16
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Nampoothiri Sheela,Elcioglu Nursel H.,Koca Suleyman S.,Yesodharan Dhanya,KK Chandrababu,Krishnan Vinod,Bhat Meenakshi,Mohandas Nair K ,Radhakrishnan Natasha,Kappanayil Mahesh,Sheth Jayesh J.,Alves Sandra,Coutinho Francisca,Friez Michael J.,Pauli Richard M.,Unger Sheila,Superti-Furga Andrea,Leroy Jules G.,Cathey Sara S.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference23 articles.

1. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands;Cathey;J Med Genet,2010

2. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III: identification of eight novel mutations;Encarnação;Clin Genet,2009

3. Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma;Gao;Mol Genet Metab,2011

4. Oligosaccharides in lysosomal enzymes. Distribution of high-mannose and complex oligosaccharides in cathepsin D and beta-hexosaminidase;Hasilik;Eur J Biochem,1981

5. Lysosomal enzymes and their receptors;Hasilik;Annu Rev Biochem,1986

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