Phase I/II Trial of Adeno-Associated Virus–Mediated Alpha-Glucosidase Gene Therapy to the Diaphragm for Chronic Respiratory Failure in Pompe Disease: Initial Safety and Ventilatory Outcomes

Structural Insight into the Unique Properties of Adeno-Associated Virus Serotype 9

(2012) M. A. DiMattia et al.   JOURNAL OF VIROLOGY

Inspiratory Muscle Strength Training in Infants With Congenital Heart Disease and Prolonged Mechanical Ventilation: A Case Report

(2012) B. K. Smith et al.   PHYSICAL THERAPY

Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy

(2011) C. M. van Gelder et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Merry Christmas for Patients with Hemophilia B

(2011) Katherine P. Ponder   NEW ENGLAND JOURNAL OF MEDICINE

Rapidly Progressive Diaphragmatic Weakness and Injury during Mechanical Ventilation in Humans

(2010) Samir Jaber et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D

(2010) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

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

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

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

(2010) Anupam Chakrapani et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Gel-mediated Delivery of AAV1 Vectors Corrects Ventilatory Function in Pompe Mice With Established Disease

(2010) Cathryn S Mah et al.   MOLECULAR THERAPY

Inspiratory muscle training in a child with nemaline myopathy and organ transplantation

(2010) Barbara K. Smith et al.   Pediatric Critical Care Medicine

Acute Progression of Neuromuscular Findings in Infantile Pompe Disease

(2010) T. Andrew Burrow et al.   PEDIATRIC NEUROLOGY

Diaphragm motor unit recruitment in rats

(2010) Carlos B. Mantilla et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

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

Pulmonary complications of neuromuscular disease: A Respiratory mechanics perspective

(2009) Julian Allen   Paediatric Respiratory Reviews

Neural deficits contribute to respiratory insufficiency in Pompe disease

(2009) L. R. DeRuisseau et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy

(2009) M. L. Brantly et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Treatment of Leber Congenital Amaurosis Due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial

(2008) William W. Hauswirth et al.   HUMAN GENE THERAPY

Pompe's disease

(2008) Ans T van der Ploeg et al.   LANCET

Rapid Disuse Atrophy of Diaphragm Fibers in Mechanically Ventilated Humans

(2008) Sanford Levine et al.   NEW ENGLAND JOURNAL OF MEDICINE

Measurement of maximal inspiratory pressure in ventilated children

(2008) Gopinathannair Harikumar et al.   PEDIATRIC PULMONOLOGY