Glycogen storage disease due to muscle beta-enolase deficiency
All Entries 7
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
- Malignant hyperthermia of anesthesia
- Botulism
- Lambert-Eaton myasthenic syndrome
- Limb-girdle muscular dystrophy
- Charcot-Marie-Tooth disease type 1
- Rhabdomyosarcoma
- Myotonic dystrophy
- Guillain-Barré syndrome
- Duchenne and Becker muscular dystrophy
- Juvenile myasthenia gravis
- Dermatomyositis
- Amyotrophic lateral sclerosis
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
- 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
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Maple syrup urine disease
- Disorder of ketolysis
- Disorder of fructose metabolism
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
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
- Maple syrup urine disease
- Tyrosinemia type 1
- Disorder of carnitine cycle and carnitine transport
- Phenylketonuria
- Mitochondrial disease
- Fabry disease
- Very long chain acyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
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
- Disorder of carbohydrate metabolism
- Rare epilepsy
- Primary ciliary dyskinesia
- Respiratory malformation
- Autosomal dominant polycystic kidney disease
- Disorder of lipid metabolism
- Autosomal recessive polycystic kidney disease
- Nephronophthisis
- 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
- Juvenile amyotrophic lateral sclerosis
- Finnish upper limb-onset distal myopathy
- Adult-onset distal myopathy due to VCP mutation
- Autosomal dominant limb-girdle muscular dystrophy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Neuromuscular junction disease
- Myasthenia gravis
- Duchenne and Becker muscular dystrophy
- Motor neuron disease
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Bethlem muscular dystrophy
- Muscular channelopathy
- Muscular dystrophy
- Neuromuscular disease
Parent facilities 0
Genetic Advices 0
Care facilities 5
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
- Malignant hyperthermia of anesthesia
- Botulism
- Lambert-Eaton myasthenic syndrome
- Limb-girdle muscular dystrophy
- Charcot-Marie-Tooth disease type 1
- Rhabdomyosarcoma
- Myotonic dystrophy
- Guillain-Barré syndrome
- Duchenne and Becker muscular dystrophy
- Juvenile myasthenia gravis
- Dermatomyositis
- Amyotrophic lateral sclerosis
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
- 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
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Maple syrup urine disease
- Disorder of ketolysis
- Disorder of fructose metabolism
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
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
- Maple syrup urine disease
- Tyrosinemia type 1
- Disorder of carnitine cycle and carnitine transport
- Phenylketonuria
- Mitochondrial disease
- Fabry disease
- Very long chain acyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
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
- Disorder of carbohydrate metabolism
- Rare epilepsy
- Primary ciliary dyskinesia
- Respiratory malformation
- Autosomal dominant polycystic kidney disease
- Disorder of lipid metabolism
- Autosomal recessive polycystic kidney disease
- Nephronophthisis
- 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
- Juvenile amyotrophic lateral sclerosis
- Finnish upper limb-onset distal myopathy
- Adult-onset distal myopathy due to VCP mutation
- Autosomal dominant limb-girdle muscular dystrophy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Neuromuscular junction disease
- Myasthenia gravis
- Duchenne and Becker muscular dystrophy
- Motor neuron disease
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Bethlem muscular dystrophy
- Muscular channelopathy
- Muscular dystrophy
- Neuromuscular disease