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Muscle & Nerve, ISSN 0148-639X, 01/2007, Volume 35, Issue 1, pp. 70 - 77
Adult‐onset acid maltase deficiency is an inherited lysosomal skeletal‐muscle disease characterized by progressive myopathy and respiratory failure, for which... 
adult‐onset acid maltase deficiency | natural history of acid maltase deficiency | nutrition and exercise therapy | muscle function deterioration | Nutrition and exercise therapy | Muscle function deterioration | Natural history of acid maltase deficiency | Adult-onset acid maltase deficiency | DISEASE TYPE-II | adult-onset acid maltase deficiency | ALPHA-GLUCOSIDASE | MUSCLE | STORAGE-DISEASE | MYOPATHY | NEUROSCIENCES | GLYCOGEN | HIGH-PROTEIN-DIET | IMPROVEMENT | ENZYME REPLACEMENT THERAPY | POMPES-DISEASE | Prospective Studies | Humans | Middle Aged | Male | Muscle, Skeletal - metabolism | Dietary Carbohydrates - metabolism | Glycogen Storage Disease Type II - therapy | Dietary Proteins - metabolism | Muscular Diseases - physiopathology | Adult | Female | Exercise Therapy - methods | Physical Fitness - physiology | Respiratory Insufficiency - physiopathology | Muscular Diseases - metabolism | Treatment Outcome | Respiratory Insufficiency - therapy | Food, Formulated | Disease Progression | Glycogen Storage Disease Type II - physiopathology | Muscle, Skeletal - physiopathology | Vital Capacity - physiology | Glycogen Storage Disease Type II - metabolism | Aged | Patient Compliance | Respiratory Function Tests | Dietary Proteins - therapeutic use | Muscular Diseases - therapy | Dietary Carbohydrates - therapeutic use | Respiratory Insufficiency - metabolism | Nutrition Therapy - methods
Journal Article
Journal of the Pakistan Medical Association, ISSN 0030-9982, 08/2011, Volume 61, Issue 8, pp. 821 - 823
Journal Article
Revue des Maladies Respiratoires, ISSN 0761-8425, 2012, Volume 29, Issue 1, pp. 74 - 78
Acid maltase deficiency (AMD) is a metabolic myopathy which may be revealed at adulthood by respiratory muscle weakness, resulting in reduced vital capacity,... 
Non invasive ventilation | Reduced vital capacity | Sleep apnoea | Alveolar hypoventilation | Acid maltase deficiency
Journal Article
REVUE DES MALADIES RESPIRATOIRES, ISSN 0761-8425, 01/2012, Volume 29, Issue 1, pp. 74 - 78
Acid maltase deficiency (AMD) is a metabolic myopathy which may be revealed at adulthood by respiratory muscle weakness, resulting in reduced vital capacity,... 
DIAGNOSIS | RESPIRATORY SYSTEM | Non invasive ventilation | ONSET POMPES-DISEASE | INSUFFICIENCY | ADULTS | Sleep apnoea | Reduced vital capacity | ALPHA | Alveolar hypoventilation | Acid maltase deficiency
Journal Article
Muscle & Nerve, ISSN 0148-639X, 01/1995, Volume 18, Issue 14 S, pp. S61 - S69
textabstractGlycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal... 
acid maltase | glucosidase | therapy | glycogenosis | prenatal diagnosis | chorionic villi | lysosomal | DISEASE TYPE-II | SKELETAL-MUSCLE | INTRACELLULAR-TRANSPORT | LYSOSOMAL ALPHA-GLUCOSIDASE | GENETIC-HETEROGENEITY | ENZYME REPLACEMENT THERAPY | GAUCHER DISEASE | NEUROSCIENCES | SUCRASE-ISOMALTASE COMPLEX | CULTURED FIBROBLASTS | PRENATAL-DIAGNOSIS
Journal Article
LANCET, ISSN 0140-6736, 10/2008, Volume 372, Issue 9646, pp. 1342 - 1353
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic... 
ENZYME-REPLACEMENT THERAPY | GENOTYPE-PHENOTYPE CORRELATION | SKELETAL-MUSCLE | MEDICINE, GENERAL & INTERNAL | GLYCOGENOSIS TYPE-II | KNOCKOUT MOUSE MODEL | MALTASE DEFICIENCY | ACID-ALPHA-GLUCOSIDASE | DIRECT MULTIPLEX ASSAY | DRIED BLOOD SPOTS | HIGH-LEVEL PRODUCTION | Ventilation | Product development | Disease | Patients | Risk factors
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2000, Volume 10, Issue 8, pp. 599 - 603
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, ISSN 1552-4868, 02/2012, Volume 160C, Issue 1, pp. 59 - 68
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that is caused by acid a-glucosidase (GAA) deficiency and is due to pathogenic... 
Pompe disease | acid a-glucosidase deficiency | FREQUENT MUTATION | MALTASE DEFICIENCY | BASILAR ARTERY | lysosomal storage disorder | SPANISH PATIENTS | MOLECULAR-IDENTIFICATION | acid maltase deficiency | GLYCOGENOSIS TYPE-II | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | glycogenosis | CHINESE PATIENTS | CATALYTIC SITE | KNOCKOUT MOUSE
Journal Article
Journal Article
Neurologia Argentina, ISSN 1853-0028, 2017, Volume 9, Issue 3, pp. 191 - 194
Introduction Late-onset Pompés disease is a rare autosomal recessive disorder which usually presents as a limb-girdle myopathy with early respiratory... 
Pompe's disease | Fibromyalgia | Acid maltase deficiency | Diagnosis
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, ISSN 1552-4868, 02/2012, Volume 160C, Issue 1, pp. 1 - 7
Pompe disease is an autosomal recessive neuromuscular disorder marked by progressive muscle weakness due to lysosomal buildup of glycogen. Presentation is... 
Pompe disease | acid a-glucosidase deficiency | glycogen storage disease type II | MALTASE DEFICIENCY | lysosomal storage disorder | CHILDREN | ALGLUCOSIDASE ALPHA | GLYCOGEN | acid maltase deficiency | INFANTS | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | glycogenosis | ENZYME REPLACEMENT THERAPY | ARTERIOPATHY | ONSET | CLINICAL-OUTCOMES
Journal Article
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