A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment

Infantile Pompe disease on ERT-Update on clinical presentation, musculoskeletal management, and exercise considerations

(2012) Laura E. Case et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening

(2011) Yin-Hsiu Chien et al.   JOURNAL OF PEDIATRICS

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots

(2011) Shohei Shigeto et al.   MOLECULAR GENETICS AND METABOLISM

Newborn screening for Pompe disease in Japan

(2011) Eri Oda et al.   MOLECULAR GENETICS AND METABOLISM

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives

(2011) Arnold J. Reuser et al.   MOLECULAR GENETICS AND METABOLISM

Early cognitive development in children with infantile Pompe disease

(2011) Gail A. Spiridigliozzi et al.   MOLECULAR GENETICS AND METABOLISM

¿Cuándo deberíamos iniciar el tratamiento enzimático sustitutivo de la enfermedad de Pompe infantil con miocardiopatía severa?

(2011) Juan L. Bonilla-Palomas et al.   REVISTA ESPANOLA DE CARDIOLOGIA

Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study

(2010) C.I. van Capelle et al.   NEUROMUSCULAR DISORDERS

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

(2010) Ans T. van der Ploeg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

(2009) Marc Nicolino et al.   GENETICS IN MEDICINE

High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

(2009) Shingo Kumamoto et al.   MOLECULAR GENETICS AND METABOLISM

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

(2009) Paul Labrousse et al.   MOLECULAR GENETICS AND METABOLISM

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

(2009) Priya S Kishnani et al.   PEDIATRIC RESEARCH

Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

(2009) Y.-H. Chien et al.   PEDIATRICS

Clinical features of late-onset Pompe disease: A prospective cohort study

(2008) John H.J. Wokke et al.   MUSCLE & NERVE

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

(2008) Y.-H. Chien et al.   PEDIATRICS