Glycogen storage disease due to muscle phosphorylase kinase deficiency
All Entries 6
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
- Duchenne and Becker muscular dystrophy
- Limb-girdle muscular dystrophy
- Juvenile myasthenia gravis
- Dermatomyositis
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
- Malignant hyperthermia of anesthesia
- Rhabdomyosarcoma
- Botulism
- Charcot-Marie-Tooth disease type 1
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Mathildenstraße 1
79106 Freiburg
- Disorder of ketolysis
- Maple syrup urine disease
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fructose metabolism
- Glucose-galactose malabsorption
- Hereditary fructose intolerance
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Gluconeogenesis disorder
- Glycogen storage disease
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
- Phenylketonuria
- Biotinidase deficiency
- Isovaleric acidemia
- Maple syrup urine disease
- Ornithine transcarbamylase deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Congenital glucokinase-related hyperinsulinism
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Galactosemia
- Very long chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Carbamoyl-phosphate synthetase 1 deficiency
- Propionic acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
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
- Disorder of lipid metabolism
- Disorder of amino acid and other organic acid metabolism
- Respiratory malformation
- Nephronophthisis
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Cystic fibrosis
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Primary ciliary dyskinesia
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Muscular channelopathy
- Amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- Neuromuscular junction disease
- Juvenile amyotrophic lateral sclerosis
- Myasthenia gravis
- Duchenne and Becker muscular dystrophy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Bethlem muscular dystrophy
- Motor neuron disease
- Muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Adult-onset distal myopathy due to VCP mutation
- Finnish upper limb-onset distal myopathy
- Neuromuscular disease
Parent facilities 0
Genetic Advices 0
Care facilities 4
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
- Duchenne and Becker muscular dystrophy
- Limb-girdle muscular dystrophy
- Juvenile myasthenia gravis
- Dermatomyositis
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
- Malignant hyperthermia of anesthesia
- Rhabdomyosarcoma
- Botulism
- Charcot-Marie-Tooth disease type 1
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Mathildenstraße 1
79106 Freiburg
- Disorder of ketolysis
- Maple syrup urine disease
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fructose metabolism
- Glucose-galactose malabsorption
- Hereditary fructose intolerance
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Gluconeogenesis disorder
- Glycogen storage disease
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
- Phenylketonuria
- Biotinidase deficiency
- Isovaleric acidemia
- Maple syrup urine disease
- Ornithine transcarbamylase deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Congenital glucokinase-related hyperinsulinism
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Galactosemia
- Very long chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Carbamoyl-phosphate synthetase 1 deficiency
- Propionic acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
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
- Disorder of lipid metabolism
- Disorder of amino acid and other organic acid metabolism
- Respiratory malformation
- Nephronophthisis
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Cystic fibrosis
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Primary ciliary dyskinesia
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
- Amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- Neuromuscular junction disease
- Juvenile amyotrophic lateral sclerosis
- Myasthenia gravis
- Duchenne and Becker muscular dystrophy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Bethlem muscular dystrophy
- Motor neuron disease
- Muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Adult-onset distal myopathy due to VCP mutation
- Finnish upper limb-onset distal myopathy
- Neuromuscular disease