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
- Limb-girdle muscular dystrophy
- Dermatomyositis
- Botulism
- Duchenne and Becker muscular dystrophy
- Juvenile myasthenia gravis
- Charcot-Marie-Tooth disease type 1
- Rhabdomyosarcoma
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Malignant hyperthermia of anesthesia
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of ketolysis
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of fructose metabolism
- Glucose-galactose malabsorption
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Glycogen storage disease
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
Interdisziplinäres pädiatrisches Stoffwechselzentrum am Universitätsklinikum Leipzig
Universitätsklinikum Leipzig Universitäres Zentrum für Seltene Erkrankungen Leipzig (UZSEL)
Liebigstraße 20a
04103 Leipzig
0341 9726242
0341 9726229
Website
Email
0341 9726242
0341 9726229
Website
Email
- Ornithine transcarbamylase deficiency
- Isovaleric acidemia
- Propionic acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Congenital glucokinase-related hyperinsulinism
- Carbamoyl-phosphate synthetase 1 deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Maple syrup urine disease
- Galactosemia
- Argininosuccinic aciduria
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Biotinidase deficiency
- Very long chain acyl-CoA dehydrogenase 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
- Primary ciliary dyskinesia
- Rare epilepsy
- Respiratory malformation
- Disorder of lipid metabolism
- Disorder of amino acid and other organic acid metabolism
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Nephronophthisis
- Cystic fibrosis
- Autosomal recessive 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
- Muscular dystrophy
- Neuromuscular disease
- Motor neuron disease
- Juvenile amyotrophic lateral sclerosis
- Muscular channelopathy
- Bethlem muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Autosomal dominant limb-girdle muscular dystrophy
- Neuromuscular junction disease
- Finnish upper limb-onset distal myopathy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Myasthenia gravis
- Duchenne and Becker muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
- Amyotrophic lateral sclerosis
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
- Limb-girdle muscular dystrophy
- Dermatomyositis
- Botulism
- Duchenne and Becker muscular dystrophy
- Juvenile myasthenia gravis
- Charcot-Marie-Tooth disease type 1
- Rhabdomyosarcoma
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Malignant hyperthermia of anesthesia
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of ketolysis
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of fructose metabolism
- Glucose-galactose malabsorption
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Glycogen storage disease
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
Interdisziplinäres pädiatrisches Stoffwechselzentrum am Universitätsklinikum Leipzig
Universitätsklinikum Leipzig Universitäres Zentrum für Seltene Erkrankungen Leipzig (UZSEL)
Liebigstraße 20a
04103 Leipzig
0341 9726242
0341 9726229
Website
Email
0341 9726242
0341 9726229
Website
Email
- Ornithine transcarbamylase deficiency
- Isovaleric acidemia
- Propionic acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Congenital glucokinase-related hyperinsulinism
- Carbamoyl-phosphate synthetase 1 deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Maple syrup urine disease
- Galactosemia
- Argininosuccinic aciduria
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Biotinidase deficiency
- Very long chain acyl-CoA dehydrogenase 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
- Primary ciliary dyskinesia
- Rare epilepsy
- Respiratory malformation
- Disorder of lipid metabolism
- Disorder of amino acid and other organic acid metabolism
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Nephronophthisis
- Cystic fibrosis
- Autosomal recessive 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
- Muscular dystrophy
- Neuromuscular disease
- Motor neuron disease
- Juvenile amyotrophic lateral sclerosis
- Muscular channelopathy
- Bethlem muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Autosomal dominant limb-girdle muscular dystrophy
- Neuromuscular junction disease
- Finnish upper limb-onset distal myopathy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Myasthenia gravis
- Duchenne and Becker muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
- Amyotrophic lateral sclerosis