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