Behavioral, social and school functioning in children with Pompe disease-Reference-Cited by-同舟云学术

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Behavioral, social and school functioning in children with Pompe disease

Published:2020-12 Issue: Volume:25 Page:100635
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Korlimarla Aditi,Spiridigliozzi Gail A.,Stefanescu Mihaela,Austin Stephanie L.,Kishnani Priya S.

Funder

Sanofi Genzyme

Lysosomal Disease Network

The Lysosomal Disease Network

National Center for Advancing Translational Sciences

Rare Diseases Clinical Research Network

Office of Rare Diseases Research

NCATS

NINDS

NIDDK

NIH

Sanofi

Valerion Therapeutics

Amicus Therapeutics

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference20 articles.

1. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease;Kishnani;Neurology.,2007

2. Pompe disease diagnosis and management guideline;Kishnani;Genetics in medicine : official journal of the American College of Medical Genetics.,2006

3. The emerging phenotype of late-onset Pompe disease: a systematic literature review;Chan;Mol. Genet. Metab.,2017

4. Novel approaches to quantify CNS involvement in children with Pompe disease;Korlimarla;Neurology.,2020

5. An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond;Korlimarla;Ann Transl Med.,2019

Cited by 8 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. The lived experience of mothers caring for school-age children with Pompe disease: A qualitative study;Journal of Pediatric Nursing;2024-11

2. Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid scoping review of available tools and domains;Orphanet Journal of Rare Diseases;2024-07-04

3. Preclinical studies with ground germinated barley (GGB) for oral enzyme replacement therapy (Oral-ERT) in Pompe disease knockout mice;2023-12-28

4. Assessment of Parental Needs and Quality of Life in Children with a Rare Neuromuscular Disease (Pompe Disease): A Quantitative–Qualitative Study;Behavioral Sciences;2023-11-21

5. Clinical and genetic spectrum of GSD type 6 in Korea;Orphanet Journal of Rare Diseases;2023-06-01

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