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
- Juvenile myasthenia gravis
- Duchenne and Becker muscular dystrophy
- Botulism
- Rhabdomyosarcoma
- Guillain-Barré syndrome
- Malignant hyperthermia of anesthesia
- Limb-girdle muscular dystrophy
- Charcot-Marie-Tooth disease type 1
- Lambert-Eaton myasthenic syndrome
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Dermatomyositis
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Mathildenstraße 1
79106 Freiburg
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of fructose metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of branched-chain amino acid metabolism
- Disorder of ketolysis
- Glucose-galactose malabsorption
- Maple syrup urine disease
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
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
- Disorder of urea cycle metabolism and ammonia detoxification
- Medium chain acyl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Disorder of carnitine cycle and carnitine transport
- Galactosemia
- Tyrosinemia type 1
- Phenylketonuria
- Maple syrup urine disease
- Mitochondrial disease
- Glycogen storage disease
- Fabry disease
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
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Autosomal dominant polycystic kidney disease
- Respiratory malformation
- Nephronophthisis
- Disorder of carbohydrate metabolism
- Disorder of lipid metabolism
- Cystic fibrosis
- Disorder of amino acid and other organic acid 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
- Bethlem muscular dystrophy
- Muscular channelopathy
- Muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Finnish upper limb-onset distal myopathy
- Juvenile amyotrophic lateral sclerosis
- Myasthenia gravis
- Neuromuscular disease
- Duchenne and Becker muscular dystrophy
- Motor neuron disease
- Adult-onset distal myopathy due to VCP mutation
- Neuromuscular junction disease
- Amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
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
- Juvenile myasthenia gravis
- Duchenne and Becker muscular dystrophy
- Botulism
- Rhabdomyosarcoma
- Guillain-Barré syndrome
- Malignant hyperthermia of anesthesia
- Limb-girdle muscular dystrophy
- Charcot-Marie-Tooth disease type 1
- Lambert-Eaton myasthenic syndrome
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Dermatomyositis
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Mathildenstraße 1
79106 Freiburg
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of fructose metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of branched-chain amino acid metabolism
- Disorder of ketolysis
- Glucose-galactose malabsorption
- Maple syrup urine disease
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
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
- Disorder of urea cycle metabolism and ammonia detoxification
- Medium chain acyl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Disorder of carnitine cycle and carnitine transport
- Galactosemia
- Tyrosinemia type 1
- Phenylketonuria
- Maple syrup urine disease
- Mitochondrial disease
- Glycogen storage disease
- Fabry disease
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
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Autosomal dominant polycystic kidney disease
- Respiratory malformation
- Nephronophthisis
- Disorder of carbohydrate metabolism
- Disorder of lipid metabolism
- Cystic fibrosis
- Disorder of amino acid and other organic acid 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
- Bethlem muscular dystrophy
- Muscular channelopathy
- Muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Finnish upper limb-onset distal myopathy
- Juvenile amyotrophic lateral sclerosis
- Myasthenia gravis
- Neuromuscular disease
- Duchenne and Becker muscular dystrophy
- Motor neuron disease
- Adult-onset distal myopathy due to VCP mutation
- Neuromuscular junction disease
- Amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy