Glycogen storage disease due to muscle glycogen phosphorylase deficiency
All Entries 8
Universitäts NeuroMuskuläres Centrum am Universitätsklinikum Dresden
Universitätsklinikum Carl Gustav Carus Dresden UniversitätsCentrum für Seltene Erkrankungen Dresden (USE)
Fetscherstr. 74
01307 Dresden
0351 4583876
0351 4585802
Website
- Juvenile myasthenia gravis
- Dermatomyositis
- Limb-girdle muscular dystrophy
- Botulism
- Malignant hyperthermia of anesthesia
- Duchenne and Becker muscular dystrophy
- Lambert-Eaton myasthenic syndrome
- Charcot-Marie-Tooth disease type 1
- Rhabdomyosarcoma
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Guillain-Barré syndrome
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Mathildenstraße 1
79106 Freiburg
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Maple syrup urine disease
- Disorder of ketolysis
- Disorder of fructose metabolism
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Hereditary fructose intolerance
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am LMU Klinikum München
Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München LMU Klinikum München
Lindwurmstr. 4
80337 München
- Very long chain acyl-CoA dehydrogenase deficiency
- Disorder of urea cycle metabolism and ammonia detoxification
- Phenylketonuria
- Tyrosinemia type 1
- Disorder of carnitine cycle and carnitine transport
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Fabry disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Maple syrup urine disease
- Glycogen storage disease
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie am Universitätsklinikum Münster
Centrum für seltene Erkrankungen Münster Universitätsklinikum Münster (UKM)
Albert-Schweitzer-Campus 1
48149 Münster
0251 8347732
0251 8347735
Website
Email
- Primary ciliary dyskinesia
- Cystic fibrosis
- Disorder of carbohydrate metabolism
- Respiratory malformation
- Rare epilepsy
- Autosomal dominant polycystic kidney disease
- Disorder of lipid metabolism
- Nephronophthisis
- Autosomal recessive polycystic kidney disease
- Disorder of amino acid and other organic acid metabolism
Zentrum für Innere Medizin - Sektion Endokrinologie und Stoffwechselkrankheiten der Universitätsmedizin Rostock
Universitätsmedizin Rostock Zentrum für Seltene Erkrankungen an der Universitätsmedizin Rostock
Ernst-Heydemann-Straße 6
18057 Rostock
0381 4947521
0381 4947522
Website
Email
- Adrenocortical carcinoma
- Pituitary deficiency
- Cushing syndrome
- Acute adrenal insufficiency
- Multiple endocrine neoplasia type 2B
- Multiple endocrine neoplasia
- Kallmann syndrome
- Neonatal adrenoleukodystrophy
- Adrenogenital syndrome
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- Rare diabetes mellitus type 1
- Glycogen storage disease
- Pituitary adenoma
- Addison disease
- Multiple endocrine neoplasia type 2A
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Adult-onset distal myopathy due to VCP mutation
- Juvenile amyotrophic lateral sclerosis
- Bethlem muscular dystrophy
- Muscular dystrophy
- Muscular channelopathy
- Neuromuscular disease
- Finnish upper limb-onset distal myopathy
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Autosomal dominant limb-girdle muscular dystrophy
- Neuromuscular junction disease
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Duchenne and Becker muscular dystrophy
- Myasthenia gravis
- Motor neuron disease
Parent facilities 0
Genetic Advices 0
Care facilities 6
Universitäts NeuroMuskuläres Centrum am Universitätsklinikum Dresden
Universitätsklinikum Carl Gustav Carus Dresden UniversitätsCentrum für Seltene Erkrankungen Dresden (USE)
Fetscherstr. 74
01307 Dresden
0351 4583876
0351 4585802
Website
- Juvenile myasthenia gravis
- Dermatomyositis
- Limb-girdle muscular dystrophy
- Botulism
- Malignant hyperthermia of anesthesia
- Duchenne and Becker muscular dystrophy
- Lambert-Eaton myasthenic syndrome
- Charcot-Marie-Tooth disease type 1
- Rhabdomyosarcoma
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Guillain-Barré syndrome
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Mathildenstraße 1
79106 Freiburg
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Maple syrup urine disease
- Disorder of ketolysis
- Disorder of fructose metabolism
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Hereditary fructose intolerance
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am LMU Klinikum München
Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München LMU Klinikum München
Lindwurmstr. 4
80337 München
- Very long chain acyl-CoA dehydrogenase deficiency
- Disorder of urea cycle metabolism and ammonia detoxification
- Phenylketonuria
- Tyrosinemia type 1
- Disorder of carnitine cycle and carnitine transport
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Fabry disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Maple syrup urine disease
- Glycogen storage disease
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie am Universitätsklinikum Münster
Centrum für seltene Erkrankungen Münster Universitätsklinikum Münster (UKM)
Albert-Schweitzer-Campus 1
48149 Münster
0251 8347732
0251 8347735
Website
Email
- Primary ciliary dyskinesia
- Cystic fibrosis
- Disorder of carbohydrate metabolism
- Respiratory malformation
- Rare epilepsy
- Autosomal dominant polycystic kidney disease
- Disorder of lipid metabolism
- Nephronophthisis
- Autosomal recessive polycystic kidney disease
- Disorder of amino acid and other organic acid metabolism
Zentrum für Innere Medizin - Sektion Endokrinologie und Stoffwechselkrankheiten der Universitätsmedizin Rostock
Universitätsmedizin Rostock Zentrum für Seltene Erkrankungen an der Universitätsmedizin Rostock
Ernst-Heydemann-Straße 6
18057 Rostock
0381 4947521
0381 4947522
Website
Email
- Adrenocortical carcinoma
- Pituitary deficiency
- Cushing syndrome
- Acute adrenal insufficiency
- Multiple endocrine neoplasia type 2B
- Multiple endocrine neoplasia
- Kallmann syndrome
- Neonatal adrenoleukodystrophy
- Adrenogenital syndrome
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- Rare diabetes mellitus type 1
- Glycogen storage disease
- Pituitary adenoma
- Addison disease
- Multiple endocrine neoplasia type 2A
Supportgroups 2
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Adult-onset distal myopathy due to VCP mutation
- Juvenile amyotrophic lateral sclerosis
- Bethlem muscular dystrophy
- Muscular dystrophy
- Muscular channelopathy
- Neuromuscular disease
- Finnish upper limb-onset distal myopathy
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Autosomal dominant limb-girdle muscular dystrophy
- Neuromuscular junction disease
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Duchenne and Becker muscular dystrophy
- Myasthenia gravis
- Motor neuron disease