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