Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study-Reference-Cited by-同舟云学术

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Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

Published:2013 Issue:1 Volume:8 Page:92
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Guillén-Navarro Encarna,Domingo-Jiménez María,Alcalde-Martín Carlos,Cancho-Candela Ramón,Couce María,Galán-Gómez Enrique,Alonso-Luengo Olga

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Reference25 articles.

1. Segregation and sporadic cases in families with Hunter's syndrome.

2. Incidence of the mucopolysaccharidoses in Western Australia

3. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

4. Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

5. Gene Action in the X-chromosome of the Mouse (Mus musculus L.)

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1. Genotype–phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey;Molecular Genetics and Metabolism;2024-09

2. Cardiovascular damage in parents of patients with mucopolysaccharidoses;2024-04-30

3. Hunter Syndrome and Bullʼs Eye Maculopathy;Klinische Monatsblätter für Augenheilkunde;2024-04

4. Audiological Profiling and Rehabilitation Outcomes in a Child with Mucopolysaccharidosis Type II;Auditory and Vestibular Research;2024-01-29

5. Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2022-04

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