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
- Malignant hyperthermia of anesthesia
- Rhabdomyosarcoma
- Botulism
- Lambert-Eaton myasthenic syndrome
- Amyotrophic lateral sclerosis
- Dermatomyositis
- Limb-girdle muscular dystrophy
- Duchenne and Becker muscular dystrophy
- Guillain-Barré syndrome
- Juvenile myasthenia gravis
- Myotonic dystrophy
- Charcot-Marie-Tooth disease type 1
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Maple syrup urine disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Disorder of ketolysis
- Disorder of fructose metabolism
- Glycogen storage disease
- Hereditary fructose intolerance
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
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
Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum
Lindwurmstr. 4
80337 München
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Fabry disease
- Mitochondrial disease
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Glycogen storage disease
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Medium chain acyl-CoA dehydrogenase deficiency
- Tyrosinemia type 1
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
- Rare epilepsy
- Disorder of lipid metabolism
- Respiratory malformation
- Disorder of carbohydrate metabolism
- Primary ciliary dyskinesia
- Autosomal dominant polycystic kidney disease
- Disorder of amino acid and other organic acid metabolism
- Nephronophthisis
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Amyotrophic lateral sclerosis
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Amyotrophic lateral sclerosis type 4
- Muscular dystrophy
- Muscular channelopathy
- Bethlem muscular dystrophy
- Juvenile amyotrophic lateral sclerosis
- Myasthenia gravis
- Neuromuscular disease
- Finnish upper limb-onset distal myopathy
- Duchenne and Becker muscular dystrophy
- Neuromuscular junction disease
- Motor neuron disease
- Autosomal dominant limb-girdle muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
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
- Malignant hyperthermia of anesthesia
- Rhabdomyosarcoma
- Botulism
- Lambert-Eaton myasthenic syndrome
- Amyotrophic lateral sclerosis
- Dermatomyositis
- Limb-girdle muscular dystrophy
- Duchenne and Becker muscular dystrophy
- Guillain-Barré syndrome
- Juvenile myasthenia gravis
- Myotonic dystrophy
- Charcot-Marie-Tooth disease type 1
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Maple syrup urine disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Disorder of ketolysis
- Disorder of fructose metabolism
- Glycogen storage disease
- Hereditary fructose intolerance
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
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
Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum
Lindwurmstr. 4
80337 München
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Fabry disease
- Mitochondrial disease
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Glycogen storage disease
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Medium chain acyl-CoA dehydrogenase deficiency
- Tyrosinemia type 1
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
- Rare epilepsy
- Disorder of lipid metabolism
- Respiratory malformation
- Disorder of carbohydrate metabolism
- Primary ciliary dyskinesia
- Autosomal dominant polycystic kidney disease
- Disorder of amino acid and other organic acid metabolism
- Nephronophthisis
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
Supportgroups 2
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Amyotrophic lateral sclerosis
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Amyotrophic lateral sclerosis type 4
- Muscular dystrophy
- Muscular channelopathy
- Bethlem muscular dystrophy
- Juvenile amyotrophic lateral sclerosis
- Myasthenia gravis
- Neuromuscular disease
- Finnish upper limb-onset distal myopathy
- Duchenne and Becker muscular dystrophy
- Neuromuscular junction disease
- Motor neuron disease
- Autosomal dominant limb-girdle muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation