A Novel Mutation (p.Met1?) of a Cuban Patient in the NAGLU Gene with Mucopolysaccharidosis IIIB-Reference-Cited by-同舟云学术

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A Novel Mutation (p.Met1?) of a Cuban Patient in the NAGLU Gene with Mucopolysaccharidosis IIIB

Published:2021 Issue: Volume:9 Page:
ISSN:2326-4594
Container-title:Journal of Inborn Errors of Metabolism and Screening
language:
Short-container-title:J. inborn errors metab. screen.

Author:

Rey Laritza Martínez¹^ORCID,Sánchez Tatiana Acosta¹,Naranjo Deynis Carmenate¹,Cuesta Hector Vera²

Affiliation:

1. Centro Nacional de Genética Médica, Cuba

2. Centro Internacional de Restauración Neurológica, Cuba

Publisher

FapUNIFESP (SciELO)

Subject

Genetics(clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Reference14 articles.

1. Glycosaminoglycans and mucopolysaccharidosis type III;Jakobkiewicz-Banecka J;Front Biosci,2016

2. Sanfilippo syndrome: overall review;Andrade F;Pediatr Int,2015

3. Emery and Rimoin´s principles and practice of medical genetics;Spranger J,2002

4. Long-term clinical course of a patient with mucopolysaccharidosis type IIIB;Kim JH;Korean J Pediatr,2016

5. Epidemiology of mucopolysaccharidoses;Khan SA;Mol Genet Metab,2017

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