Glycogen storage disease due to muscle phosphorylase kinase deficiency
All Entries 6
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
- Malignant hyperthermia of anesthesia
- Rhabdomyosarcoma
- Botulism
- Charcot-Marie-Tooth disease type 1
- Amyotrophic lateral sclerosis
- Duchenne and Becker muscular dystrophy
- Juvenile myasthenia gravis
- Dermatomyositis
- Myotonic dystrophy
- Limb-girdle muscular dystrophy
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
- Hereditary fructose intolerance
- Disorder of fructose metabolism
- Disorder of branched-chain amino acid metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Glucose-galactose malabsorption
- Disorder of ketolysis
- Maple syrup urine disease
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
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
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- 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
- Isovaleric acidemia
- Biotinidase deficiency
- Ornithine transcarbamylase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Galactosemia
- Propionic acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Congenital glucokinase-related hyperinsulinism
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 carbohydrate metabolism
- Disorder of lipid 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
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Muscular channelopathy
- Muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Bethlem muscular dystrophy
- Finnish upper limb-onset distal myopathy
- Juvenile amyotrophic lateral sclerosis
- Myasthenia gravis
- Neuromuscular disease
- Duchenne and Becker muscular dystrophy
- Motor neuron disease
- Neuromuscular junction disease
- Amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
Parent facilities 0
Genetic Advices 0
Care facilities 4
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
- Malignant hyperthermia of anesthesia
- Rhabdomyosarcoma
- Botulism
- Charcot-Marie-Tooth disease type 1
- Amyotrophic lateral sclerosis
- Duchenne and Becker muscular dystrophy
- Juvenile myasthenia gravis
- Dermatomyositis
- Myotonic dystrophy
- Limb-girdle muscular dystrophy
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
- Hereditary fructose intolerance
- Disorder of fructose metabolism
- Disorder of branched-chain amino acid metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Glucose-galactose malabsorption
- Disorder of ketolysis
- Maple syrup urine disease
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
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
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- 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
- Isovaleric acidemia
- Biotinidase deficiency
- Ornithine transcarbamylase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Galactosemia
- Propionic acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Congenital glucokinase-related hyperinsulinism
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 carbohydrate metabolism
- Disorder of lipid 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
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Muscular channelopathy
- Muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Bethlem muscular dystrophy
- Finnish upper limb-onset distal myopathy
- Juvenile amyotrophic lateral sclerosis
- Myasthenia gravis
- Neuromuscular disease
- Duchenne and Becker muscular dystrophy
- Motor neuron disease
- Neuromuscular junction disease
- Amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation