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