Death from supine asphyxia in late onset pompe disease: Two patients
Author:
Affiliation:
1. Division of Pediatric Neurology, Department of Pediatrics; Duke University Medical Center; Durham North Carolina
2. Division of Medical Genetics, Department of Pediatrics; Duke University Medical Center; Durham North Carolina
Funder
Genzyme
Amicus
Brawner Consulting
Clarion Healthcare LLC
Fitzpatrick Cella Harper & Scinto
Patterson Belknap Webb & Tyler LLP
ClearView Healthcare Partners
AskBio
Shire HGT
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference5 articles.
1. Alpha-Glucosidase deficiency in generalized glycogen storage disease (Pompe's disease);Hers;Biochem J,1963
2. Motor function and respiratory capacity in patients with late-onset pompe disease;Illes;Muscle Nerve,2014
3. Pompe disease: A neuromuscular disease with respiratory muscle involvement;Mellies;Respir Med,2009
4. Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease;Pellegrini;Eur Respir J,2005
5. Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease;van der Beek;Mol Genet Metab,2011
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1. Efficacious Androgen Hormone Administration in Combination with Adeno-Associated Virus Vector-Mediated Gene Therapy in Female Mice with Pompe Disease;Human Gene Therapy;2022-05-01
2. Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease;Molecular Genetics and Metabolism;2020-02
3. Advancements in AAV-mediated Gene Therapy for Pompe Disease;Journal of Neuromuscular Diseases;2020-01-22
4. Pompe Disease;Neurometabolic Hereditary Diseases of Adults;2018
5. The emerging phenotype of late-onset Pompe disease: A systematic literature review;Molecular Genetics and Metabolism;2017-03
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