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