Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel <i>GAA</i> gene 4 bp deletion: A case study-Reference-Cited by-同舟云学术

Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study

Published:2022-05-09 Issue:7 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Cerón‐Rodríguez Magdalena¹^ORCID,Castillo‐García Daniela¹,Acosta‐Rodríguez‐Bueno Carlos‐Patricio²,Aguirre‐Hernández Jesús³,Murillo‐Eliosa Juan‐Rafael⁴,Valencia‐Mayoral Pedro⁴,Escobar‐Sánchez Argelia⁴,Salgado‐Loza Juan‐Luis⁵^ORCID

Affiliation:

1. Department of Lysosomal Diseases Hospital Infantil de México Federico Gómez Ciudad de México Mexico

2. Department of Pediatrics Hospital Infantil de México Federico Gómez Ciudad de México Mexico

3. Laboratory of Genomics, Genetics and Bioinformatics, Department of Genetics Hospital Infantil de México Federico Gómez Ciudad de México Mexico

4. Department of Pathology Hospital Infantil de México Federico Gómez Ciudad de México Mexico

5. Scientific Information Department SICODIC Mexico City Mexico

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1957

Reference38 articles.

1. The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test = تحديد الطفرات المسببة لمرض بومبي في عينات أنسجة محفوظة و تطوير الفحص الجزيئي

2. Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT

3. The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type II

4. Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy

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