@prefix jvr: . @prefix skos: . @prefix mesh: . @prefix dc: . @prefix xsd: . @prefix owl: . jvr:-WWJHCQRB-K skos:prefLabel "surgery (Qualifier)"@en, "chirurgie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-SDXQ5280-F skos:prefLabel "mortality (Qualifier)"@en, "mortalité (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-HPKB70N8-W skos:prefLabel "rehabilitation (Qualifier)"@en, "rééducation et réadaptation (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-VG20R78F-K skos:prefLabel "embryologie (Qualificatif)"@fr, "embryology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-Z9TSGBXH-4 skos:prefLabel "génétique (Qualificatif)"@fr, "genetics (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-L6C0XPHT-4 skos:prefLabel "métabolisme (Qualificatif)"@fr, "metabolism (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-WQ00QWRG-J skos:prefLabel "physiopathologie (Qualificatif)"@fr, "physiopathology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-DH7H9MJ2-N skos:prefLabel "anatomopathologie (Qualificatif)"@fr, "pathology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-MDQBX560-1 skos:prefLabel "radiotherapy (Qualifier)"@en, "radiothérapie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-ZJBZVRWR-8 skos:prefLabel "parasitologie (Qualificatif)"@fr, "parasitology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-W6T67RP3-2 skos:prefLabel "diagnostic imaging (Qualifier)"@en, "imagerie diagnostique (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-B6C87218-T skos:prefLabel "prévention et contrôle (Qualificatif)"@fr, "prevention & control (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-BQ3W1P91-F skos:prefLabel "thérapie (Qualificatif)"@fr, "therapy (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-KRXG97RR-5 skos:prefLabel "diagnostic (Qualificatif)"@fr, "diagnosis (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-QJKPM4J1-8 skos:prefLabel "alpha-Glucosidase"@fr, "alpha-Glucosidases"@en ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-KXNHX1QS-T . jvr:-J9Z93VFN-9 skos:prefLabel "enzymology (Qualifier)"@en, "enzymologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-T1QJHLQ4-J skos:prefLabel "microbiology (Qualifier)"@en, "microbiologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-KFM33PF8-L skos:prefLabel "médecine vétérinaire (Qualificatif)"@fr, "veterinary (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr: a skos:ConceptScheme . jvr:-BBD0S71C-R skos:prefLabel "induit chimiquement (Qualificatif)"@fr, "chemically induced (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-XVHTZRCG-7 skos:prefLabel "étiologie (Qualificatif)"@fr, "etiology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-P1X8SCQ6-K skos:prefLabel "virologie (Qualificatif)"@fr, "virology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-T6JZ48ZV-N skos:prefLabel "complications (Qualifier)"@en, "complications (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-SDPG013V-D skos:prefLabel "psychology (Qualifier)"@en, "psychologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-W6SQV79N-S skos:prefLabel "classification (Qualifier)"@en, "classification (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-GXVR9QN8-P skos:prefLabel "drug therapy (Qualifier)"@en, "traitement médicamenteux (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-S0CS1X5R-5 skos:prefLabel "immunology (Qualifier)"@en, "immunologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-CB30NGKB-3 skos:prefLabel "economics (Qualifier)"@en, "économie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-RMM2C4RH-6 skos:prefLabel "Glucan 1,4-alpha-glucosidase"@fr, "Glucan 1,4-alpha-Glucosidase"@en ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-KXNHX1QS-T . jvr:-G56ZQLPL-7 skos:prefLabel "Glycogen Storage Disease"@en, "Glycogénose"@fr ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-KXNHX1QS-T . jvr:-CSKTXWF5-F skos:prefLabel "epidemiology (Qualifier)"@en, "épidémiologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-BT300B3G-Q skos:prefLabel "cerebrospinal fluid (Qualifier)"@en, "liquide cérébrospinal (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-JVKFK2NX-2 skos:prefLabel "nursing (Qualifier)"@en, "soins infirmiers (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-W4X1LN61-R skos:prefLabel "diet therapy (Qualifier)"@en, "diétothérapie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-RC3PND0F-S skos:prefLabel "ethnology (Qualifier)"@en, "ethnologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-KXNHX1QS-T skos:hiddenLabel "Infantile Glycogen Storage Disease Type II"@en, "Glycogénose de type 2 juvénile"@fr, "Glycogen Storage Disease Type II, Infantile"@en, "Juvenile Glycogen Storage Disease Type II"@en, "Glycogen Storage Disease Type II, Adult"@en, "Glycogénose de type 2 de l'adulte"@fr, "Glycogen Storage Disease Type II, Juvenile"@en, "Glycogénose de type II de l'adulte"@fr, "Glycogénose de type 2 infantile"@fr, "Alpha-1,4-Glucosidase Deficiency"@en, "Adult Glycogen Storage Disease Type II"@en, "Acid Maltase Deficiency"@en, "Glycogénose de type II juvénile"@fr, "Glycogénose de type II infantile"@fr ; skos:broader jvr:-ZZCR4CSG-8, jvr:-G56ZQLPL-7 ; mesh:allowableQualifier jvr:-W6T67RP3-2, jvr:-KFM33PF8-L, jvr:-CSKTXWF5-F, jvr:-BT300B3G-Q, jvr:-MDQBX560-1, jvr:-CB30NGKB-3, jvr:-KRXG97RR-5, jvr:-DH7H9MJ2-N, jvr:-WQ00QWRG-J, jvr:-W4X1LN61-R, jvr:-XVHTZRCG-7, jvr:-SDPG013V-D, jvr:-SBNWSM1T-R, jvr:-T6JZ48ZV-N, jvr:-HPKB70N8-W, jvr:-RC3PND0F-S, jvr:-VG20R78F-K, jvr:-SDXQ5280-F, jvr:-GXVR9QN8-P, jvr:-B6C87218-T, jvr:-BBD0S71C-R, jvr:-BQ3W1P91-F, jvr:-S0CS1X5R-5, jvr:-XV06LPML-W, jvr:-W6SQV79N-S, jvr:-T1QJHLQ4-J, jvr:-L6C0XPHT-4, jvr:-WWJHCQRB-K, jvr:-J9Z93VFN-9, jvr:-ZJBZVRWR-8, jvr:-Z9TSGBXH-4, jvr:-NHL3D2X0-S, jvr:-JVKFK2NX-2, jvr:-P1X8SCQ6-K ; skos:altLabel "Generalized Glycogenosis"@en, "Pompe's Disease"@en, "Déficit en maltase acide"@fr, "Glycogen Storage Disease Type 2"@en, "GSD II"@fr, "GSD II"@en, "Maladie de Pompe"@fr, "Déficit en alpha-1,4-glucosidase acide lysosomiale"@fr, "GSD2"@en, "Glycogenosis 2"@en, "Glycogénose de Pompe"@fr, "Glycogenosis Type II"@en, "Deficiency of Alpha-Glucosidase"@en, "Déficit en alpha-1,4-glucosidase acide"@fr, "Lysosomal alpha-1,4-Glucosidase Deficiency Disease"@en, "Déficit en alpha-1,4-glucosidase acide lysosomale"@fr, "Glycogénose de type 2"@fr, "GAA Deficiency"@en, "Deficiency Disease, Acid Maltase"@en, "Acid Alpha-Glucosidase Deficiency"@en, "Deficiency Disease, Lysosomal alpha-1,4-Glucosidase"@en, "Pompe Disease"@en, "Glycogen Storage Disease II"@en, "Acid Maltase Deficiency Disease"@en ; dc:established "1989-01-01"^^xsd:date ; skos:prefLabel "Glycogénose de type II"@fr, "Glycogen Storage Disease Type II"@en ; skos:inScheme jvr: ; a skos:Concept, mesh:Descriptor ; owl:sameAs ; skos:related jvr:-RMM2C4RH-6, jvr:-QJKPM4J1-8 ; skos:definition "An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)"@en ; dc:created "1974-12-12"^^xsd:date ; dc:modified "2013-07-08"^^xsd:date . jvr:-XV06LPML-W skos:prefLabel "urine (Qualifier)"@en, "urine (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-ZZCR4CSG-8 skos:prefLabel "Maladies neurologiques de surcharge lysosomiale"@fr, "Lysosomal Storage Diseases, Nervous System"@en ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-KXNHX1QS-T . jvr:-NHL3D2X0-S skos:prefLabel "sang (Qualificatif)"@fr, "blood (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-SBNWSM1T-R skos:prefLabel "history (Qualifier)"@en, "histoire (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept .