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