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Journal of Pediatrics, The, ISSN 0022-3476, 2015, Volume 166, Issue 4, pp. 1075 - 1078.e1
Pompe disease (PD), or glycogen storage disease type II, results from deficiency of acid α-glucosidase. Patients with infantile-onset PD die by early childhood... 
Pediatrics | PEDIATRICS | ADRENARCHE | THERAPY | GIRLS | ONSET | Puberty | Prognosis | Follow-Up Studies | Humans | Child, Preschool | Infant | Male | Glycogen Storage Disease Type II - therapy | Glycogen Storage Disease Type II - physiopathology | Enzyme Replacement Therapy - methods | Sexual Development | Female | Retrospective Studies | Child | Enzymes | Neurosciences | Ophthalmology | Glycogen | Medical genetics
Journal Article
Clinical Therapeutics, ISSN 0149-2918, 2010, Volume 32, pp. S49 - S50
Journal Article
Annals of Epidemiology, ISSN 1047-2797, 2012, Volume 22, Issue 12, pp. 892 - 894
Abstract Purpose Oxidative stress has been implicated in Down syndrome (DS) pathology. This study compares DS individuals and controls on their urinary levels... 
Internal Medicine | Urine | Tandem mass spectrometry | Biomarker | Down syndrome | tandem mass spectrometry | biomarker | urine
Journal Article
Journal of Inborn Errors of Metabolism and Screening, ISSN 2326-4098, 5/2017, Volume 5, p. 232640981770777
Pulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI). We... 
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2013, Volume 8, Issue 6, p. e67052
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2009, Volume 360, Issue 2, pp. 194 - 195
Journal Article
Journal Article
Molecular Therapy - Methods & Clinical Development, ISSN 2329-0501, 03/2019, Volume 12, pp. 233 - 245
Pompe disease, a severe and often fatal neuromuscular disorder, is caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). The disease is... 
Pompe disease | neurological deficits | AAV-PHP.B vector | acid alpha-glucosidase deficiency | gene therapy | glycogen storage | CNS | Enzymes | Spinal cord | Intravenous administration | Cardiac muscle | Glycogen | Injection | Skeletal muscle | Defects | Neurological diseases | Musculoskeletal system | Pathology | Walking | Acids | Actin | Gene therapy | Age | Pharmaceuticals
Journal Article
Genetics in Medicine, ISSN 1098-3600, 11/2017, Volume 19, Issue 11, pp. 1281 - 1282
Journal Article
Journal Article