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
UniversitätsCentrum für Seltene Erkrankungen Dresden (USE) Universitätsklinikum Carl Gustav Carus Dresden
Fetscherstr. 74
01307 Dresden
0351 4583876
0351 4585802
Website
- Rhabdomyosarcoma
- Malignant hyperthermia of anesthesia
- Charcot-Marie-Tooth disease type 1
- Lambert-Eaton myasthenic syndrome
- Amyotrophic lateral sclerosis
- Dermatomyositis
- Guillain-Barré syndrome
- Limb-girdle muscular dystrophy
- Juvenile myasthenia gravis
- Myotonic dystrophy
- Duchenne and Becker muscular dystrophy
- Botulism
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Disorder of branched-chain amino acid metabolism
- Disorder of ketolysis
- Disorder of fructose metabolism
- Disorder of galactose metabolism
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Gluconeogenesis disorder
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Hereditary fructose intolerance
- Fabry disease
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am 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
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Tyrosinemia type 1
- Fabry disease
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Disorder of carnitine cycle and carnitine transport
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
- Cystic fibrosis
- Autosomal dominant polycystic kidney disease
- Respiratory malformation
- Disorder of lipid metabolism
- Disorder of amino acid and other organic acid metabolism
- Primary ciliary dyskinesia
- Nephronophthisis
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- 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
- Myasthenia gravis
- Finnish upper limb-onset distal myopathy
- Duchenne and Becker muscular dystrophy
- Juvenile amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
- Bethlem muscular dystrophy
- Muscular channelopathy
- Neuromuscular disease
- Muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Amyotrophic lateral sclerosis
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Neuromuscular junction disease
- Motor neuron disease
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
UniversitätsCentrum für Seltene Erkrankungen Dresden (USE) Universitätsklinikum Carl Gustav Carus Dresden
Fetscherstr. 74
01307 Dresden
0351 4583876
0351 4585802
Website
- Rhabdomyosarcoma
- Malignant hyperthermia of anesthesia
- Charcot-Marie-Tooth disease type 1
- Lambert-Eaton myasthenic syndrome
- Amyotrophic lateral sclerosis
- Dermatomyositis
- Guillain-Barré syndrome
- Limb-girdle muscular dystrophy
- Juvenile myasthenia gravis
- Myotonic dystrophy
- Duchenne and Becker muscular dystrophy
- Botulism
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Disorder of branched-chain amino acid metabolism
- Disorder of ketolysis
- Disorder of fructose metabolism
- Disorder of galactose metabolism
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Gluconeogenesis disorder
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Hereditary fructose intolerance
- Fabry disease
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am 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
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Tyrosinemia type 1
- Fabry disease
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Disorder of carnitine cycle and carnitine transport
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
- Cystic fibrosis
- Autosomal dominant polycystic kidney disease
- Respiratory malformation
- Disorder of lipid metabolism
- Disorder of amino acid and other organic acid metabolism
- Primary ciliary dyskinesia
- Nephronophthisis
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- 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
- Myasthenia gravis
- Finnish upper limb-onset distal myopathy
- Duchenne and Becker muscular dystrophy
- Juvenile amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
- Bethlem muscular dystrophy
- Muscular channelopathy
- Neuromuscular disease
- Muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Amyotrophic lateral sclerosis
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Neuromuscular junction disease
- Motor neuron disease