The emerging phenotype of long-term survivors with infantile Pompe disease

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

(2011) Suhrad G. Banugaria et al.   GENETICS IN MEDICINE

Pompe disease: Design, methodology, and early findings from the Pompe Registry

(2011) Barry J. Byrne et al.   MOLECULAR GENETICS AND METABOLISM

Atypical immunologic response in a patient with CRIM-negative Pompe disease

(2011) Mary-Alice Abbott et al.   MOLECULAR GENETICS AND METABOLISM

CRIM-negative infantile Pompe disease: 42-month treatment outcome

(2010) Marianne Rohrbach et al.   JOURNAL OF INHERITED METABOLIC DISEASE

United States Head Circumference Growth Reference Charts: Birth to 21 Years

(2010) Jonathan D. Rollins et al.   JOURNAL OF PEDIATRICS

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

Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease

(2009) Harrison N. Jones et al.   DYSPHAGIA

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

Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease

(2009) Lei-Ru Chen et al.   JOURNAL OF PEDIATRICS

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

(2009) Priya S. Kishnani 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

Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease

(2008) Roddy McDowell et al.   GENETICS IN MEDICINE

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

(2008) Marian Kroos et al.   HUMAN MUTATION

Cardiac Remodeling After Enzyme Replacement Therapy with Acid α-Glucosidase for Infants with Pompe Disease

(2008) Jami C. Levine et al.   PEDIATRIC CARDIOLOGY