Genetic variants of Pompe disease among a sample of Egyptian pediatric patients-Reference-Cited by-同舟云学术

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Genetic variants of Pompe disease among a sample of Egyptian pediatric patients

Published:2022-06 Issue: Volume:27 Page:101631
ISSN:2452-0144
Container-title:Gene Reports
language:en
Short-container-title:Gene Reports

Author:

Darwish Rania K.^ORCID,Rabie Walaa A.^ORCID,El Abd Dina M.^ORCID,Selim Laila A.^ORCID,Seliem Zeinab S.,Lotfy Sarah A.^ORCID,Mehaney Dina A.^ORCID

Publisher

Elsevier BV

Subject

Genetics

Reference20 articles.

1. Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report;Adadi;J. Med. Case Rep.,2018

2. Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group;Al Jasmi;BMC Neurol.,2015

3. Diagnostic criteria for late-onset (childhood and adult) Pompe disease;Al-Lozi;Muscle Nerve,2009

4. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease;Banugaria;Genet Med.,2011

5. Genotype-phenotype correlation in Pompe disease, a step forward;De Filippi;Orphanet. J. Rare Dis.,2014

Cited by 1 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. CRIM-negative infantile Pompe disease, long-term observation of the effect of enzyme replacement therapy: a clinical case;Kuban Scientific Medical Bulletin;2024-04-28

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