Glycogen storage disease due to phosphoglycerate mutase deficiency
All Entries 8
Klinik für Neurologie am St. Josefs Hospital Bochum
St. Josefs Hospital - Katholisches Klinikum Bochum
Gudrunstraße 56
44791 Bochum
0234 5092420
0234 5092414
Website
Email
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
- Dermatomyositis
- Limb-girdle muscular dystrophy
- Duchenne and Becker muscular dystrophy
- Guillain-Barré syndrome
- Juvenile myasthenia gravis
- Amyotrophic lateral sclerosis
- Charcot-Marie-Tooth disease type 1
- Lambert-Eaton myasthenic syndrome
- Botulism
- Rhabdomyosarcoma
- Myotonic dystrophy
- Malignant hyperthermia of anesthesia
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fructose metabolism
- Disorder of ketolysis
- Maple syrup urine disease
- Hereditary fructose intolerance
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Gluconeogenesis disorder
- Glycogen storage disease
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Medizinische Hochschule Hannover Zentrum für Seltene Erkrankungen Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am LMU Klinikum München
LMU Klinikum München Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München
Lindwurmstr. 4
80337 München
- Medium chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Disorder of carnitine cycle and carnitine transport
- Mitochondrial disease
- Maple syrup urine disease
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Galactosemia
- Fabry disease
- Tyrosinemia type 1
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 amino acid and other organic acid metabolism
- Disorder of lipid metabolism
- Cystic fibrosis
- Respiratory malformation
- Autosomal dominant polycystic kidney disease
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Primary ciliary dyskinesia
- Nephronophthisis
- Disorder of carbohydrate metabolism
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Neuromuscular junction disease
- Adult-onset distal myopathy due to VCP mutation
- Duchenne and Becker muscular dystrophy
- Amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- Myasthenia gravis
- Bethlem muscular dystrophy
- Motor neuron disease
- Neuromuscular disease
- Juvenile amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Finnish upper limb-onset distal myopathy
- Muscular dystrophy
- Muscular channelopathy
Parent facilities 0
Genetic Advices 0
Care facilities 6
Klinik für Neurologie am St. Josefs Hospital Bochum
St. Josefs Hospital - Katholisches Klinikum Bochum
Gudrunstraße 56
44791 Bochum
0234 5092420
0234 5092414
Website
Email
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
- Dermatomyositis
- Limb-girdle muscular dystrophy
- Duchenne and Becker muscular dystrophy
- Guillain-Barré syndrome
- Juvenile myasthenia gravis
- Amyotrophic lateral sclerosis
- Charcot-Marie-Tooth disease type 1
- Lambert-Eaton myasthenic syndrome
- Botulism
- Rhabdomyosarcoma
- Myotonic dystrophy
- Malignant hyperthermia of anesthesia
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fructose metabolism
- Disorder of ketolysis
- Maple syrup urine disease
- Hereditary fructose intolerance
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Gluconeogenesis disorder
- Glycogen storage disease
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Medizinische Hochschule Hannover Zentrum für Seltene Erkrankungen Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am LMU Klinikum München
LMU Klinikum München Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München
Lindwurmstr. 4
80337 München
- Medium chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Disorder of carnitine cycle and carnitine transport
- Mitochondrial disease
- Maple syrup urine disease
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Galactosemia
- Fabry disease
- Tyrosinemia type 1
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 amino acid and other organic acid metabolism
- Disorder of lipid metabolism
- Cystic fibrosis
- Respiratory malformation
- Autosomal dominant polycystic kidney disease
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Primary ciliary dyskinesia
- Nephronophthisis
- Disorder of carbohydrate 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
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Neuromuscular junction disease
- Adult-onset distal myopathy due to VCP mutation
- Duchenne and Becker muscular dystrophy
- Amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- Myasthenia gravis
- Bethlem muscular dystrophy
- Motor neuron disease
- Neuromuscular disease
- Juvenile amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Finnish upper limb-onset distal myopathy
- Muscular dystrophy
- Muscular channelopathy