Glycogen storage disease due to muscle phosphorylase kinase deficiency
All Entries 7
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
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Hereditary fructose intolerance
- Maple syrup urine disease
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Disorder of ketolysis
- Disorder of fructose metabolism
- Fabry disease
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
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
- Galactosemia
- Argininosuccinic aciduria
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Propionic acidemia
- Congenital glucokinase-related hyperinsulinism
- Biotinidase deficiency
- 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
- Isovaleric acidemia
- Very long chain acyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Ornithine transcarbamylase deficiency
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
Centrum für seltene Erkrankungen Münster Universitätsklinikum Münster (UKM)
Albert-Schweitzer-Campus 1
48149 Münster
0251 8347732
0251 8347735
Website
Email
- Disorder of amino acid and other organic acid metabolism
- Disorder of lipid metabolism
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Nephronophthisis
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
- Primary ciliary dyskinesia
- Rare epilepsy
- Respiratory malformation
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Muscular channelopathy
- Neuromuscular junction disease
- Amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- Juvenile amyotrophic lateral sclerosis
- Myasthenia gravis
- Duchenne and Becker muscular dystrophy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Motor neuron disease
- Muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Bethlem muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
- Finnish upper limb-onset distal myopathy
- Neuromuscular disease
Parent facilities 0
Genetic Advices 0
Care facilities 5
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
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Hereditary fructose intolerance
- Maple syrup urine disease
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Disorder of ketolysis
- Disorder of fructose metabolism
- Fabry disease
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
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
- Galactosemia
- Argininosuccinic aciduria
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Propionic acidemia
- Congenital glucokinase-related hyperinsulinism
- Biotinidase deficiency
- 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
- Isovaleric acidemia
- Very long chain acyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Ornithine transcarbamylase deficiency
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
Centrum für seltene Erkrankungen Münster Universitätsklinikum Münster (UKM)
Albert-Schweitzer-Campus 1
48149 Münster
0251 8347732
0251 8347735
Website
Email
- Disorder of amino acid and other organic acid metabolism
- Disorder of lipid metabolism
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Nephronophthisis
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
- Primary ciliary dyskinesia
- Rare epilepsy
- 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
- Muscular channelopathy
- Neuromuscular junction disease
- Amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- Juvenile amyotrophic lateral sclerosis
- Myasthenia gravis
- Duchenne and Becker muscular dystrophy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Motor neuron disease
- Muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Bethlem muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
- Finnish upper limb-onset distal myopathy
- Neuromuscular disease