Glycogen storage disease due to muscle phosphorylase kinase deficiency
All Entries 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
- Rhabdomyosarcoma
- Limb-girdle muscular dystrophy
- Dermatomyositis
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
- Myotonic dystrophy
- Amyotrophic lateral sclerosis
- Charcot-Marie-Tooth disease type 1
- Malignant hyperthermia of anesthesia
- Duchenne and Becker muscular dystrophy
- Botulism
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of fructose metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of ketolysis
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Glucose-galactose malabsorption
- Hereditary fructose intolerance
- Glycogen storage disease
Interdisziplinäres pädiatrisches Stoffwechselzentrum am Universitätsklinikum Leipzig
Universitäres Zentrum für Seltene Erkrankungen Leipzig (UZSEL) Universitätsklinikum Leipzig
Liebigstraße 20a
04103 Leipzig
0341 9726242
0341 9726229
Website
Email
0341 9726242
0341 9726229
Website
Email
- Phenylketonuria
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Maple syrup urine disease
- Isovaleric acidemia
- Ornithine transcarbamylase deficiency
- Biotinidase deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Congenital glucokinase-related hyperinsulinism
- Carbamoyl-phosphate synthetase 1 deficiency
- Galactosemia
- Very long chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Propionic acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie am Universitätsklinikum Münster
Universitätsklinikum Münster (UKM) Centrum für seltene Erkrankungen Münster
Albert-Schweitzer-Campus 1
48149 Münster
0251 8347732
0251 8347735
Website
Email
- Disorder of carbohydrate metabolism
- Autosomal dominant polycystic kidney disease
- Disorder of amino acid and other organic acid metabolism
- Autosomal recessive polycystic kidney disease
- Nephronophthisis
- Cystic fibrosis
- Primary ciliary dyskinesia
- Disorder of lipid metabolism
- Rare epilepsy
- Respiratory malformation
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Juvenile amyotrophic lateral sclerosis
- Finnish upper limb-onset distal myopathy
- Adult-onset distal myopathy due to VCP mutation
- Duchenne and Becker muscular dystrophy
- Neuromuscular junction disease
- Motor neuron disease
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Autosomal dominant limb-girdle muscular dystrophy
- Myasthenia gravis
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Bethlem muscular dystrophy
- Neuromuscular disease
- Muscular dystrophy
- Muscular channelopathy
Parent facilities 0
Genetic Advices 0
Care facilities 4
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
- Rhabdomyosarcoma
- Limb-girdle muscular dystrophy
- Dermatomyositis
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
- Myotonic dystrophy
- Amyotrophic lateral sclerosis
- Charcot-Marie-Tooth disease type 1
- Malignant hyperthermia of anesthesia
- Duchenne and Becker muscular dystrophy
- Botulism
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of fructose metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of ketolysis
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Glucose-galactose malabsorption
- Hereditary fructose intolerance
- Glycogen storage disease
Interdisziplinäres pädiatrisches Stoffwechselzentrum am Universitätsklinikum Leipzig
Universitäres Zentrum für Seltene Erkrankungen Leipzig (UZSEL) Universitätsklinikum Leipzig
Liebigstraße 20a
04103 Leipzig
0341 9726242
0341 9726229
Website
Email
0341 9726242
0341 9726229
Website
Email
- Phenylketonuria
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Maple syrup urine disease
- Isovaleric acidemia
- Ornithine transcarbamylase deficiency
- Biotinidase deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Congenital glucokinase-related hyperinsulinism
- Carbamoyl-phosphate synthetase 1 deficiency
- Galactosemia
- Very long chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Propionic acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie am Universitätsklinikum Münster
Universitätsklinikum Münster (UKM) Centrum für seltene Erkrankungen Münster
Albert-Schweitzer-Campus 1
48149 Münster
0251 8347732
0251 8347735
Website
Email
- Disorder of carbohydrate metabolism
- Autosomal dominant polycystic kidney disease
- Disorder of amino acid and other organic acid metabolism
- Autosomal recessive polycystic kidney disease
- Nephronophthisis
- Cystic fibrosis
- Primary ciliary dyskinesia
- Disorder of lipid metabolism
- Rare epilepsy
- Respiratory malformation
Supportgroups 2
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Juvenile amyotrophic lateral sclerosis
- Finnish upper limb-onset distal myopathy
- Adult-onset distal myopathy due to VCP mutation
- Duchenne and Becker muscular dystrophy
- Neuromuscular junction disease
- Motor neuron disease
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Autosomal dominant limb-girdle muscular dystrophy
- Myasthenia gravis
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Bethlem muscular dystrophy
- Neuromuscular disease
- Muscular dystrophy
- Muscular channelopathy