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
- Limb-girdle muscular dystrophy
- Duchenne and Becker muscular dystrophy
- Malignant hyperthermia of anesthesia
- Charcot-Marie-Tooth disease type 1
- Rhabdomyosarcoma
- Botulism
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
- Dermatomyositis
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Maple syrup urine disease
- Disorder of ketolysis
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Glycogen storage disease
- Disorder of fructose metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
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
- Very long chain acyl-CoA dehydrogenase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Biotinidase deficiency
- Phenylketonuria
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Ornithine transcarbamylase deficiency
- Isovaleric acidemia
- Maple syrup urine disease
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Congenital glucokinase-related hyperinsulinism
- Propionic acidemia
- Galactosemia
- 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
- Nephronophthisis
- Disorder of carbohydrate metabolism
- Disorder of lipid metabolism
- Cystic fibrosis
- Disorder of amino acid and other organic acid metabolism
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Autosomal dominant polycystic kidney disease
- Respiratory malformation
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Neuromuscular disease
- Finnish upper limb-onset distal myopathy
- Adult-onset distal myopathy due to VCP mutation
- Juvenile amyotrophic lateral sclerosis
- Muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Bethlem muscular dystrophy
- Muscular channelopathy
- Amyotrophic lateral sclerosis
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Motor neuron disease
- Autosomal dominant limb-girdle muscular dystrophy
- Neuromuscular junction disease
- Duchenne and Becker muscular dystrophy
- Myasthenia gravis
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
- Limb-girdle muscular dystrophy
- Duchenne and Becker muscular dystrophy
- Malignant hyperthermia of anesthesia
- Charcot-Marie-Tooth disease type 1
- Rhabdomyosarcoma
- Botulism
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
- Dermatomyositis
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Maple syrup urine disease
- Disorder of ketolysis
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Glycogen storage disease
- Disorder of fructose metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
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
- Very long chain acyl-CoA dehydrogenase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Biotinidase deficiency
- Phenylketonuria
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Ornithine transcarbamylase deficiency
- Isovaleric acidemia
- Maple syrup urine disease
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Congenital glucokinase-related hyperinsulinism
- Propionic acidemia
- Galactosemia
- 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
- Nephronophthisis
- Disorder of carbohydrate metabolism
- Disorder of lipid metabolism
- Cystic fibrosis
- Disorder of amino acid and other organic acid metabolism
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Autosomal dominant polycystic kidney disease
- 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
- Neuromuscular disease
- Finnish upper limb-onset distal myopathy
- Adult-onset distal myopathy due to VCP mutation
- Juvenile amyotrophic lateral sclerosis
- Muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Bethlem muscular dystrophy
- Muscular channelopathy
- Amyotrophic lateral sclerosis
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Motor neuron disease
- Autosomal dominant limb-girdle muscular dystrophy
- Neuromuscular junction disease
- Duchenne and Becker muscular dystrophy
- Myasthenia gravis