Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

Author:

Lee Ni-Chung,Chang Kai-Ling,in 't Groen Stijn L.M.,de Faria Douglas O.S.ORCID,Huang Hsiang-Ju,Pijnappel W.W.M.Pim.,Hwu Wuh-Liang,Chien Yin-HsiuORCID

Funder

Amicus Therapeutics

Takeda Pharmaceutical Company

PTC Therapeutics

Biogen

Sanofi Genzyme

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference41 articles.

1. Glycogen storage disease type II: acid alphaglucosidase (acid maltase) deficiency;Hirschhorn,2001

2. Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial;Amalfitano;Genet Med,2001

3. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients;Van den Hout;Lancet,2000

4. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program;Chien;Pediatrics,2008

5. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening;Chien;J Pediatr,2011

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