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
- Guillain-Barré syndrome
- Charcot-Marie-Tooth disease type 1
- Limb-girdle muscular dystrophy
- Lambert-Eaton myasthenic syndrome
- Malignant hyperthermia of anesthesia
- Rhabdomyosarcoma
- Myotonic dystrophy
- Botulism
- Duchenne and Becker muscular dystrophy
- Dermatomyositis
- Juvenile myasthenia gravis
- Amyotrophic lateral sclerosis
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Disorder of ketolysis
- Disorder of branched-chain amino acid metabolism
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fatty acid oxidation and ketone body metabolism
- Hereditary fructose intolerance
- Disorder of fructose metabolism
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Maple syrup urine disease
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
- Medium chain acyl-CoA dehydrogenase deficiency
- Ornithine transcarbamylase 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
- Isovaleric acidemia
- Maple syrup urine disease
- Phenylketonuria
- Carbamoyl-phosphate synthetase 1 deficiency
- Congenital glucokinase-related hyperinsulinism
- Very long chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Galactosemia
- Propionic acidemia
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 lipid metabolism
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Respiratory malformation
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Primary ciliary dyskinesia
- Disorder of amino acid and other organic acid metabolism
- Nephronophthisis
- Cystic fibrosis
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Muscular channelopathy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Autosomal dominant limb-girdle muscular dystrophy
- Myasthenia gravis
- Neuromuscular junction disease
- Adult-onset distal myopathy due to VCP mutation
- Amyotrophic lateral sclerosis
- Juvenile amyotrophic lateral sclerosis
- Motor neuron disease
- Duchenne and Becker muscular dystrophy
- Neuromuscular disease
- Finnish upper limb-onset distal myopathy
- Muscular dystrophy
- Bethlem muscular dystrophy
- Amyotrophic lateral sclerosis type 4
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
- Guillain-Barré syndrome
- Charcot-Marie-Tooth disease type 1
- Limb-girdle muscular dystrophy
- Lambert-Eaton myasthenic syndrome
- Malignant hyperthermia of anesthesia
- Rhabdomyosarcoma
- Myotonic dystrophy
- Botulism
- Duchenne and Becker muscular dystrophy
- Dermatomyositis
- Juvenile myasthenia gravis
- Amyotrophic lateral sclerosis
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Disorder of ketolysis
- Disorder of branched-chain amino acid metabolism
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fatty acid oxidation and ketone body metabolism
- Hereditary fructose intolerance
- Disorder of fructose metabolism
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Maple syrup urine disease
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
- Medium chain acyl-CoA dehydrogenase deficiency
- Ornithine transcarbamylase 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
- Isovaleric acidemia
- Maple syrup urine disease
- Phenylketonuria
- Carbamoyl-phosphate synthetase 1 deficiency
- Congenital glucokinase-related hyperinsulinism
- Very long chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Galactosemia
- Propionic acidemia
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 lipid metabolism
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Respiratory malformation
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Primary ciliary dyskinesia
- Disorder of amino acid and other organic acid metabolism
- Nephronophthisis
- Cystic fibrosis
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
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Autosomal dominant limb-girdle muscular dystrophy
- Myasthenia gravis
- Neuromuscular junction disease
- Adult-onset distal myopathy due to VCP mutation
- Amyotrophic lateral sclerosis
- Juvenile amyotrophic lateral sclerosis
- Motor neuron disease
- Duchenne and Becker muscular dystrophy
- Neuromuscular disease
- Finnish upper limb-onset distal myopathy
- Muscular dystrophy
- Bethlem muscular dystrophy
- Amyotrophic lateral sclerosis type 4