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