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