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by Zhao, YY and Wang, ZX and Lu, JH and Gu, XF and Huang, YL and Qiu, ZQ and Wei, YP and Yan, CZ
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 04/2019, Volume 14, Issue 1, pp. 78 - 7
BackgroundPompe disease is a rare, progressive, autosomal recessive lysosomal storage disorder caused by mutations in the acid -glucosidase gene. This is the... 
Pompe disease | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | GENE | Late onset Pompe disease | China | GENETICS & HEREDITY | ALPHA | NATURAL COURSE | Pompe registry | Glycogenosis | Diagnosis | Research | Gene mutations | Enzymes | Cardiomyopathy | Data processing | Mutation | Respiration | Patients | Age | Deoxyribonucleic acid--DNA | Hereditary diseases
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 12/2018, Volume 41, Issue 6, pp. 917 - 927
Management of liver glycogen storage diseases (GSDs) primarily involves maintaining normoglycemia through dietary modifications and regular glucose monitoring.... 
MEDICINE, RESEARCH & EXPERIMENTAL | GLYCEMIC CONTROL | QUALITY | ADULTS | SECONDARY | IMPAIRED AWARENESS | CHILDREN | DIABETES-MELLITUS | FREQUENCY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | HYPOGLYCEMIA | LIFE | Hyperglycemia | Sleep | Liver diseases | Glycogenosis | Daytime | Glycogen | Diabetes mellitus | Glucose | Hypoglycemia | Metabolism | Patients | Storage diseases
Journal Article
Medicina (Argentina), ISSN 0025-7680, 10/2015, Volume 75, Issue 5, pp. 315 - 318
Journal Article
Paediatric Respiratory Reviews, ISSN 1526-0542, 04/2019, Volume 30, pp. 65 - 71
Interstitial lung diseases in children (chILD) are rare and diverse. The current classifications include a group of early onset chILD specific to infancy,... 
Pulmonary interstitial glycogenosis (PIG) alveolar capillary–congenital acinar dysplasia (ACD–CAD) | Pulmonary dysmaturity | Neuro-endocrine cell hyperplasia of infancy (NEHI) | Children’s interstitial lung disease [chILD]
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 06/2019, Volume 29, Issue 6, pp. 444 - 447
Subjects with late-onset Pompe disease (LOPD) typically present as slowly progressive proximal muscle weakness. Respiratory muscle weakness and diaphragmatic... 
Hypercapnic respiratory drive | Respiratory underresponsiveness to hypoxia and hypercapnia | Hypercapnia | Central chemoreception | Control of breathing | Late-onset Pompe disease | STORAGE | SYSTEM | CONSENSUS | NEUROSCIENCES | CLINICAL NEUROLOGY | ENZYME REPLACEMENT THERAPY | GLYCOGENOSIS
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2005, Volume 352, Issue 4, pp. 362 - 372
Journal Article
American Journal of Physiology (Consolidated), ISSN 0002-9513, 06/2017, Volume 312, Issue 6, p. L873
Pompe disease is an autosomal recessive disorder caused by a deficiency of acid [alpha]-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal... 
Glucosidases | Physiological aspects | Smooth muscle | Glycogenosis | Health aspects | Airway (Medicine)
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 11/2013, Volume 84, Issue 11, pp. e2 - e2
A 51 year old gentleman who had experienced a spontaneous intracerebral haemorrhage was referred for a neurological opinion when the anaesthetists experienced... 
Complications and side effects | Blood circulation disorders | Brain | Glycogenosis | Hemorrhage | Risk factors
Journal Article