Glycogen storage disease due to muscle phosphorylase kinase deficiency
All Entries 7
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
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of fructose metabolism
- Disorder of branched-chain amino acid metabolism
- Fabry disease
- Hereditary fructose intolerance
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Maple syrup urine disease
- Disorder of ketolysis
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
- Propionic acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Ornithine transcarbamylase deficiency
- Isovaleric acidemia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Biotinidase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Galactosemia
- Phenylketonuria
- Congenital glucokinase-related hyperinsulinism
- 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
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Universitätsmedizin Mainz Zentrum für Seltene Erkrankungen Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
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
- Disorder of lipid metabolism
- Autosomal dominant polycystic kidney disease
- Respiratory malformation
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Disorder of carbohydrate metabolism
- Nephronophthisis
- 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
- Muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Adult-onset distal myopathy due to VCP mutation
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Amyotrophic lateral sclerosis
- Neuromuscular junction disease
- Motor neuron disease
- Myasthenia gravis
- Autosomal dominant limb-girdle muscular dystrophy
- Duchenne and Becker muscular dystrophy
- Finnish upper limb-onset distal myopathy
- Juvenile amyotrophic lateral sclerosis
- Neuromuscular disease
- Bethlem muscular dystrophy
- Muscular channelopathy
Parent facilities 0
Genetic Advices 0
Care facilities 5
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
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of fructose metabolism
- Disorder of branched-chain amino acid metabolism
- Fabry disease
- Hereditary fructose intolerance
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Maple syrup urine disease
- Disorder of ketolysis
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
- Propionic acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Ornithine transcarbamylase deficiency
- Isovaleric acidemia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Biotinidase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Galactosemia
- Phenylketonuria
- Congenital glucokinase-related hyperinsulinism
- 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
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Universitätsmedizin Mainz Zentrum für Seltene Erkrankungen Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
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
- Disorder of lipid metabolism
- Autosomal dominant polycystic kidney disease
- Respiratory malformation
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Disorder of carbohydrate metabolism
- Nephronophthisis
- 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
- Muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Adult-onset distal myopathy due to VCP mutation
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Amyotrophic lateral sclerosis
- Neuromuscular junction disease
- Motor neuron disease
- Myasthenia gravis
- Autosomal dominant limb-girdle muscular dystrophy
- Duchenne and Becker muscular dystrophy
- Finnish upper limb-onset distal myopathy
- Juvenile amyotrophic lateral sclerosis
- Neuromuscular disease
- Bethlem muscular dystrophy
- Muscular channelopathy