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

Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy

(2011) Daniel Forsha et al.   GENETICS IN MEDICINE

Expanding the clinical spectrum of late-onset Pompe disease: Dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered

(2011) Areeg H. El-Gharbawy et al.   MOLECULAR GENETICS AND METABOLISM

Making diagnosis of Pompe disease at a presymptomatic stage: To treat or not to treat?

(2011) K. Laloui et al.   NEUROLOGY

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

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

High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation

(2010) Keiko Ishigaki et al.   ACTA NEUROPATHOLOGICA

Pilot Study Assessing Differentiation of Steatosis Hepatis, Hepatic Iron Overload, and Combined Disease Using Two-Point Dixon MRI at 3 T: In Vitro and In Vivo Results of a 2D Decomposition Technique

(2010) Daniel T. Boll et al.   AMERICAN JOURNAL OF ROENTGENOLOGY

Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response

(2010) Sabrina Ravaglia et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy

(2010) Piers C.A. Barker et al.   MOLECULAR GENETICS AND METABOLISM

Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy

(2010) Claire Wary 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

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

Screening for pompe disease using a rapid dried blood spot method: Experience of a clinical diagnostic laboratory

(2009) Jennifer L. Goldstein et al.   MUSCLE & NERVE

Enzyme replacement therapy in severe adult-onset glycogen storage disease type II

(2008) Sabrina Ravaglia et al.   ADVANCES IN THERAPY

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

(2008) Nomazulu Dlamini et al.   NEUROMUSCULAR DISORDERS