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