Glycogen storage disease due to muscle phosphorylase kinase deficiency
All Entries 7
Universitäts NeuroMuskuläres Centrum am Universitätsklinikum Dresden
UniversitätsCentrum für Seltene Erkrankungen Dresden (USE) Universitätsklinikum Carl Gustav Carus Dresden
Fetscherstr. 74
01307 Dresden
0351 4583876
0351 4585802
Website
- Myotonic dystrophy
- Amyotrophic lateral sclerosis
- Charcot-Marie-Tooth disease type 1
- Botulism
- Juvenile myasthenia gravis
- Duchenne and Becker muscular dystrophy
- Dermatomyositis
- Rhabdomyosarcoma
- Malignant hyperthermia of anesthesia
- Limb-girdle muscular dystrophy
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of ketolysis
- Disorder of branched-chain amino acid metabolism
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Hereditary fructose intolerance
- Disorder of fructose metabolism
- Glycogen storage disease
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Maple syrup urine 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
- Isovaleric acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Biotinidase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Ornithine transcarbamylase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Very long chain acyl-CoA dehydrogenase deficiency
- Galactosemia
- Propionic acidemia
- Congenital glucokinase-related hyperinsulinism
- Phenylketonuria
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Maple syrup urine disease
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Zentrum für Seltene Erkrankungen Mainz Universitätsmedizin Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
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 amino acid and other organic acid metabolism
- Nephronophthisis
- Rare epilepsy
- Autosomal dominant polycystic kidney disease
- Autosomal recessive polycystic kidney disease
- Primary ciliary dyskinesia
- Disorder of carbohydrate metabolism
- Cystic fibrosis
- Respiratory malformation
- Disorder of lipid metabolism
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Myasthenia gravis
- Muscular channelopathy
- Neuromuscular junction disease
- Autosomal dominant limb-girdle muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
- Finnish upper limb-onset distal myopathy
- Neuromuscular disease
- Muscular dystrophy
- Motor neuron disease
- Amyotrophic lateral sclerosis type 4
- Amyotrophic lateral sclerosis
- Bethlem muscular dystrophy
- Juvenile amyotrophic lateral sclerosis
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Duchenne and Becker muscular dystrophy
Parent facilities 0
Genetic Advices 0
Care facilities 5
Universitäts NeuroMuskuläres Centrum am Universitätsklinikum Dresden
UniversitätsCentrum für Seltene Erkrankungen Dresden (USE) Universitätsklinikum Carl Gustav Carus Dresden
Fetscherstr. 74
01307 Dresden
0351 4583876
0351 4585802
Website
- Myotonic dystrophy
- Amyotrophic lateral sclerosis
- Charcot-Marie-Tooth disease type 1
- Botulism
- Juvenile myasthenia gravis
- Duchenne and Becker muscular dystrophy
- Dermatomyositis
- Rhabdomyosarcoma
- Malignant hyperthermia of anesthesia
- Limb-girdle muscular dystrophy
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of ketolysis
- Disorder of branched-chain amino acid metabolism
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Hereditary fructose intolerance
- Disorder of fructose metabolism
- Glycogen storage disease
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Maple syrup urine 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
- Isovaleric acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Biotinidase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Ornithine transcarbamylase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Very long chain acyl-CoA dehydrogenase deficiency
- Galactosemia
- Propionic acidemia
- Congenital glucokinase-related hyperinsulinism
- Phenylketonuria
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Maple syrup urine disease
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Zentrum für Seltene Erkrankungen Mainz Universitätsmedizin Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
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 amino acid and other organic acid metabolism
- Nephronophthisis
- Rare epilepsy
- Autosomal dominant polycystic kidney disease
- Autosomal recessive polycystic kidney disease
- Primary ciliary dyskinesia
- Disorder of carbohydrate metabolism
- Cystic fibrosis
- Respiratory malformation
- Disorder of lipid metabolism
Supportgroups 2
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Myasthenia gravis
- Muscular channelopathy
- Neuromuscular junction disease
- Autosomal dominant limb-girdle muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
- Finnish upper limb-onset distal myopathy
- Neuromuscular disease
- Muscular dystrophy
- Motor neuron disease
- Amyotrophic lateral sclerosis type 4
- Amyotrophic lateral sclerosis
- Bethlem muscular dystrophy
- Juvenile amyotrophic lateral sclerosis
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Duchenne and Becker muscular dystrophy