Severe distal muscle involvement and mild sensory neuropathy in a boy with infantile onset Pompe disease treated with enzyme replacement therapy for 6 years
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference20 articles.
1. Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy;Parini;Orphanet J Rare Dis,2018
2. Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth;Chien;J Pediatr,2015
3. The emerging phenotype of long-term survivors with infantile Pompe disease;Prater;Genet Med,2012
4. Quantification of muscle pathology in infantile Pompe disease;Schänzer;Neuromuscul Disord,2017
5. Qualitative and quantitative morphology of human sural nerve at different ages;Jacobs;Brain,1985
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1. Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort;Journal of Neuromuscular Diseases;2024-01-02
2. Increasing Enzyme Mannose-6-Phosphate Levels but Not Miglustat Coadministration Enhances the Efficacy of Enzyme Replacement Therapy in Pompe Mice;Journal of Pharmacology and Experimental Therapeutics;2023-09-07
3. Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease;Neurology;2023-08-08
4. Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease;Metabolomics;2023-03-29
5. Small fiber involvement is independent from clinical pain in late-onset Pompe disease;Orphanet Journal of Rare Diseases;2022-04-27
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