Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening
Author:
Funder
National Science Council
Genzyme
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference22 articles.
1. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency;Hirschhorn,2001
2. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype;Kroos;Neurology,2007
3. Clinical manifestation and natural course of late-onset Pompe’s disease in 54 Dutch patients;Hagemans;Brain,2005
4. The natural course of non-classic Pompe’s disease; a review of 225 published cases;Winkel;J Neurol,2005
5. Course of disability and respiratory function in untreated late-onset Pompe disease;Hagemans;Neurology,2006
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2. A Study to Identify Individuals At Risk To Be Affected By Pompe Disease Who Had PrevioUsly Been Given a Non-Specific OR Tentative DiagnosiS For Their MUsclEWeakness (Pompe PURSUE);2024-06-13
3. Global Birth Prevalence Of Pompe Disease: A Systematic Review and Meta-Analysis;2024
4. Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives;Therapeutics and Clinical Risk Management;2023-09
5. Diagnostik, Therapie und psychosoziale Aspekte bei late-onset Morbus Pompe;Fortschritte der Neurologie · Psychiatrie;2023-07-12
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