Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16-Reference-Cited by-同舟云学术

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Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16

Published:2012-03 Issue:3 Volume:105 Page:438-442
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Catarzi S.,Giunti L.,Papadia F.,Gabrielli O.,Guerrini R.,Donati M.A.,Genuardi M.,Morrone A.

Funder

Associazione Malattie Metaboliche Congenite Ereditarie (AMMeC)

fondi ateneo (MURST ex 60%)

Associazione Italiana MPS e malattie affini (AIMPS)

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference48 articles.

1. Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase;Matalon;Biochem. Biophys. Res. Commun.,1974

2. N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease;Singh;J. Clin. Invest.,1976

3. Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase;Montano;J. Inherit. Metab. Dis.,2007

4. The classics: on a form of familial osseous dystrophy. Bull. Soc. Pediat. 27:145, 1929;Morquio;Clin. Orthop. Relat. Res.,1976

5. Studying the mucopolysaccharidoses;Lamy;Lancet,1967

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome;Molecular Genetics and Metabolism Reports;2022-12

2. Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability;European Journal of Medical Genetics;2022-09

3. Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants;Human Mutation;2021-08-23

4. Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2;Molecular Genetics and Metabolism Reports;2020-12

5. UPD16 itself is not a cause of intrauterine growth restriction;Fetal and Pediatric Pathology;2018-11-02

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