Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease-Reference-Cited by-同舟云学术

Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease

Published:2020-01 Issue: Volume:216 Page:44-50.e5
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Gupta Neerja^ORCID,Kazi Zoheb B.,Nampoothiri Sheela,Jagdeesh Sujatha,Kabra Madhulika,Puri Ratna Dua,Muranjan Mamta,Kalaivani Mani,Rehder Catherine,Bali Deeksha,Verma Ishwar C.,Kishnani Priya S.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference26 articles.

1. Identification of two subtypes of infantile acid maltase deficiency;Slonim;J Pediatr,2000

2. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease;Kishnani;J Pediatr,2006

3. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature;van den Hout;Pediatrics,2003

4. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease;Nicolino;Genet Med,2009

5. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease;Kishnani;J Pediatr,2006

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

2. The Importance of Early Treatment of Inherited Neuromuscular Conditions;Journal of Neuromuscular Diseases;2024-03-05

3. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry;Neuromuscular Disorders;2024-01

4. Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings;Molecular Genetics and Metabolism;2023-08

5. Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study;European Journal of Neurology;2023-06-10