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