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
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Glycogen storage disease
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of ketolysis
- Maple syrup urine disease
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Gluconeogenesis disorder
- Fabry disease
- Disorder of fructose metabolism
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
Interdisziplinäres pädiatrisches Stoffwechselzentrum am Universitätsklinikum Leipzig
Universitätsklinikum Leipzig Universitäres Zentrum für Seltene Erkrankungen Leipzig (UZSEL)
Liebigstraße 20a
04103 Leipzig
0341 9726242
0341 9726229
Website
Email
0341 9726242
0341 9726229
Website
Email
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Congenital glucokinase-related hyperinsulinism
- Carbamoyl-phosphate synthetase 1 deficiency
- Argininosuccinic aciduria
- Propionic acidemia
- Galactosemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Biotinidase deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Very long chain acyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Ornithine transcarbamylase deficiency
- Isovaleric acidemia
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Zentrum für Seltene Erkrankungen Mainz Universitätsmedizin Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
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
- Primary ciliary dyskinesia
- Rare epilepsy
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Disorder of amino acid and other organic acid metabolism
- Disorder of lipid metabolism
- Nephronophthisis
- 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 junction disease
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Finnish upper limb-onset distal myopathy
- Amyotrophic lateral sclerosis type 4
- Muscular dystrophy
- Muscular channelopathy
- Bethlem muscular dystrophy
- Motor neuron disease
- Neuromuscular disease
- Juvenile amyotrophic lateral sclerosis
- Duchenne and Becker muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
- Amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- Myasthenia gravis
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
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Glycogen storage disease
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of ketolysis
- Maple syrup urine disease
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Gluconeogenesis disorder
- Fabry disease
- Disorder of fructose metabolism
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
Interdisziplinäres pädiatrisches Stoffwechselzentrum am Universitätsklinikum Leipzig
Universitätsklinikum Leipzig Universitäres Zentrum für Seltene Erkrankungen Leipzig (UZSEL)
Liebigstraße 20a
04103 Leipzig
0341 9726242
0341 9726229
Website
Email
0341 9726242
0341 9726229
Website
Email
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Congenital glucokinase-related hyperinsulinism
- Carbamoyl-phosphate synthetase 1 deficiency
- Argininosuccinic aciduria
- Propionic acidemia
- Galactosemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Biotinidase deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Very long chain acyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Ornithine transcarbamylase deficiency
- Isovaleric acidemia
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Zentrum für Seltene Erkrankungen Mainz Universitätsmedizin Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
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
- Primary ciliary dyskinesia
- Rare epilepsy
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Disorder of amino acid and other organic acid metabolism
- Disorder of lipid metabolism
- Nephronophthisis
- 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 junction disease
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Finnish upper limb-onset distal myopathy
- Amyotrophic lateral sclerosis type 4
- Muscular dystrophy
- Muscular channelopathy
- Bethlem muscular dystrophy
- Motor neuron disease
- Neuromuscular disease
- Juvenile amyotrophic lateral sclerosis
- Duchenne and Becker muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
- Amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- Myasthenia gravis