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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
The New England Journal of Medicine, ISSN 0028-4793, 11/2017, Volume 377, Issue 18, pp. 1786 - 1787
If you have made a diagnosis of spinal muscular atrophy (SMA) type 1 (also known as Werdnig–Hoffman disease) in a child, then you have vivid memories of... 
NUSINERSEN | MEDICINE, GENERAL & INTERNAL | RESCUE | SMN | MOUSE MODEL | Muscular Atrophy, Spinal | Therapies, Investigational | Humans | Care and treatment | Usage | Gene therapy | Patient outcomes | Spinal muscular atrophy | Studies | Proteins | Genotype & phenotype | Neuromuscular diseases | Drug dosages | Age
Journal Article
Lancet, The, ISSN 0140-6736, 2008, Volume 372, Issue 9646, pp. 1342 - 1353
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2018, Volume 13, Issue 1, pp. 82 - 6
Journal Article
Journal Article
Clinical Chemistry, ISSN 0009-9147, 01/2017, Volume 63, Issue 1, p. 48
Journal Article
Clinical Chemistry, ISSN 0009-9147, 01/2017, Volume 63, Issue 1, p. 48
Journal Article
Clinical Chemistry, ISSN 0009-9147, 01/2017, Volume 63, Issue 1, pp. 48 - 48
Journal Article
Clinical Chemistry, ISSN 0009-9147, 01/2017, Volume 63, Issue 1, p. 48
Journal Article
Biology of Blood and Marrow Transplantation, ISSN 1083-8791, 2015, Volume 21, Issue 6, pp. 1106 - 1109
Abstract Allogeneic hematopoietic cell transplantation (HCT) is the only treatment able to prevent progressive neurodegenerative disease in a selected group of... 
Hematology, Oncology and Palliative Medicine | Hematopoietic cell transplantation | Hurler syndrome | Mucopolysaccharidosis | MARROW | HURLERS-SYNDROME | GRAFT | DONORS | IMMUNOLOGY | RISK-FACTOR ANALYSIS | TRANSPLANTATION | DISEASE | OUTCOMES | HEMATOLOGY | ENZYME REPLACEMENT THERAPY | Myeloablative Agonists - therapeutic use | Recurrence | Prognosis | Follow-Up Studies | Humans | Neurodegenerative Diseases - prevention & control | Child, Preschool | Mucopolysaccharidoses - therapy | Infant | Male | Neurodegenerative Diseases - immunology | Graft vs Host Disease - immunology | Cyclophosphamide - therapeutic use | Mucopolysaccharidoses - pathology | Transplantation, Homologous | Mucopolysaccharidoses - immunology | Mucopolysaccharidoses - mortality | Graft vs Host Disease - mortality | Female | Unrelated Donors | Transplantation Conditioning - methods | Child | Infant, Newborn | Siblings | Acute Disease | Neurodegenerative Diseases - pathology | Busulfan - therapeutic use | Hematopoietic Stem Cell Transplantation | Vidarabine - analogs & derivatives | Vidarabine - therapeutic use | Cord Blood Stem Cell Transplantation | Graft vs Host Disease - pathology | Survival Analysis | Chronic Disease | Practice Guidelines as Topic | Nervous system diseases | Transplantation | Hospitals | Mortality | Hematopoietic stem cells | Index Medicus
Journal Article
Physical therapy, ISSN 0031-9023, 11/2018, Volume 98, Issue 11, pp. 925 - 931
Background. The loss of the ability to walk is among the most prominent signs of Pompe disease. The associations with muscle strength have not been described.... 
FORCE | REHABILITATION | AMYOTROPHIC-LATERAL-SCLEROSIS | ORTHOPEDICS | GAIT SPEED | SEVERITY | AGE | Medicine, Experimental | Walking | Medical research | Adults | Kidnapping | Analysis | Original Research
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2015, Volume 38, Issue 2, pp. 305 - 314
Journal Article
Human Mutation, ISSN 1059-7794, 11/2019, Volume 40, Issue 11, pp. 1954 - 1967
Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease‐associated variants in the acid alpha‐glucosidase (GAA) gene. The current... 
cardiac and skeletal muscle disorder | glycogen storage disease type II | lysosomal storage disease | www.pompecenter.nl | genotype‐phenotype relationship | Muscles | Medicine, Experimental | Medical research | Amylases | Glycogen | Phenotypes | Databases | Enzymatic activity | Splicing | Gene frequency | Protein folding | GAA protein | Alleles | Children | Mutation | Data bases | Hereditary diseases
Journal Article