Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study

Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients

(2015) Pierre G. Carlier et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth

(2015) Yin-Hsiu Chien et al.   JOURNAL OF PEDIATRICS

Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in pompe disease

(2015) Jeffrey J. Horvath et al.   MUSCLE & NERVE

Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease

(2014) Yin-Hsiu Chien et al.   MUSCLE & NERVE

The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients

(2014) Erin J Feeney et al.   Acta Neuropathologica Communications

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

(2013) Sean N Prater et al.   Orphanet Journal of Rare Diseases

Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

(2012) Sarah P. Young et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

T2mapping provides multiple approaches for the characterization of muscle involvement in neuromuscular diseases: a cross-sectional study of lower leg muscles in 5-15-year-old boys with Duchenne muscular dystrophy

(2012) Ishu Arpan et al.   NMR IN BIOMEDICINE

Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease

(2012) Yin-Hsiu Chien et al.   PEDIATRIC NEUROLOGY

High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease

(2011) Keiko Ishigaki et al.   BRAIN & DEVELOPMENT

Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns

(2011) Robert-Yves Carlier et al.   NEUROMUSCULAR DISORDERS

Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

(2010) Nina Raben et al.   MOLECULAR GENETICS AND METABOLISM

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker

(2009) Sarah P Young et al.   GENETICS IN MEDICINE

Enzyme replacement therapy in adult-onset glycogenosis II: Is quantitative muscle MRI helpful?

(2009) A. Pichiecchio et al.   MUSCLE & NERVE

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

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

Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease)

(2008) Nomazulu Dlamini et al.   NEUROMUSCULAR DISORDERS

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

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