Glycogen storage disease due to muscle phosphorylase kinase deficiency
All Entries 7
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
- Botulism
- Rhabdomyosarcoma
- Dermatomyositis
- Malignant hyperthermia of anesthesia
- Duchenne and Becker muscular dystrophy
- Juvenile myasthenia gravis
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Charcot-Marie-Tooth disease type 1
- 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 fructose metabolism
- Fabry disease
- Disorder of branched-chain amino acid metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Disorder of ketolysis
- Maple syrup urine disease
- Glucose-galactose malabsorption
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of galactose metabolism
Interdisziplinäres pädiatrisches Stoffwechselzentrum am Universitätsklinikum Leipzig
Universitätsklinikum Leipzig Universitäres Zentrum für Seltene Erkrankungen Leipzig (UZSEL)
Liebigstraße 20a
04103 Leipzig
0341 9726242
0341 9726229
Website
Email
0341 9726242
0341 9726229
Website
Email
- Argininosuccinic aciduria
- Propionic acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Congenital glucokinase-related hyperinsulinism
- Ornithine transcarbamylase deficiency
- Galactosemia
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Isovaleric acidemia
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Maple syrup urine disease
- Phenylketonuria
- Carbamoyl-phosphate synthetase 1 deficiency
- Biotinidase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Primary ciliary dyskinesia
- Disorder of lipid metabolism
- Rare epilepsy
- Respiratory malformation
- Autosomal recessive polycystic kidney disease
- Nephronophthisis
- Cystic fibrosis
- Disorder of amino acid and other organic acid metabolism
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
- Autosomal dominant limb-girdle muscular dystrophy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Neuromuscular junction disease
- Myasthenia gravis
- Duchenne and Becker muscular dystrophy
- Motor neuron disease
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Bethlem muscular dystrophy
- Muscular dystrophy
- Muscular channelopathy
- Neuromuscular disease
- Finnish upper limb-onset distal myopathy
Parent facilities 0
Genetic Advices 0
Care facilities 5
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
- Botulism
- Rhabdomyosarcoma
- Dermatomyositis
- Malignant hyperthermia of anesthesia
- Duchenne and Becker muscular dystrophy
- Juvenile myasthenia gravis
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Charcot-Marie-Tooth disease type 1
- 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 fructose metabolism
- Fabry disease
- Disorder of branched-chain amino acid metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Disorder of ketolysis
- Maple syrup urine disease
- Glucose-galactose malabsorption
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of galactose metabolism
Interdisziplinäres pädiatrisches Stoffwechselzentrum am Universitätsklinikum Leipzig
Universitätsklinikum Leipzig Universitäres Zentrum für Seltene Erkrankungen Leipzig (UZSEL)
Liebigstraße 20a
04103 Leipzig
0341 9726242
0341 9726229
Website
Email
0341 9726242
0341 9726229
Website
Email
- Argininosuccinic aciduria
- Propionic acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Congenital glucokinase-related hyperinsulinism
- Ornithine transcarbamylase deficiency
- Galactosemia
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Isovaleric acidemia
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Maple syrup urine disease
- Phenylketonuria
- Carbamoyl-phosphate synthetase 1 deficiency
- Biotinidase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Primary ciliary dyskinesia
- Disorder of lipid metabolism
- Rare epilepsy
- Respiratory malformation
- Autosomal recessive polycystic kidney disease
- Nephronophthisis
- Cystic fibrosis
- Disorder of amino acid and other organic acid 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
- Adult-onset distal myopathy due to VCP mutation
- Juvenile amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Neuromuscular junction disease
- Myasthenia gravis
- Duchenne and Becker muscular dystrophy
- Motor neuron disease
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Bethlem muscular dystrophy
- Muscular dystrophy
- Muscular channelopathy
- Neuromuscular disease
- Finnish upper limb-onset distal myopathy