Glycogen storage disease due to muscle beta-enolase deficiency
All Entries 7
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
- Limb-girdle muscular dystrophy
- Rhabdomyosarcoma
- Dermatomyositis
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
- Charcot-Marie-Tooth disease type 1
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Malignant hyperthermia of anesthesia
- Botulism
- Duchenne and Becker muscular dystrophy
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
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
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
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Tyrosinemia type 1
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Disorder of urea cycle metabolism and ammonia detoxification
- Medium chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Fabry disease
- Mitochondrial disease
- Phenylketonuria
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
- Respiratory malformation
- Disorder of carbohydrate metabolism
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal dominant polycystic kidney disease
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
- Nephronophthisis
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Muscular channelopathy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Neuromuscular junction disease
- Autosomal dominant limb-girdle muscular dystrophy
- Juvenile amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis
- Adult-onset distal myopathy due to VCP mutation
- Duchenne and Becker muscular dystrophy
- Myasthenia gravis
- Motor neuron disease
- Bethlem muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Finnish upper limb-onset distal myopathy
- Muscular dystrophy
- Neuromuscular disease
Parent facilities 0
Genetic Advices 0
Care facilities 5
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
- Limb-girdle muscular dystrophy
- Rhabdomyosarcoma
- Dermatomyositis
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
- Charcot-Marie-Tooth disease type 1
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Malignant hyperthermia of anesthesia
- Botulism
- Duchenne and Becker muscular dystrophy
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
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
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
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Tyrosinemia type 1
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Disorder of urea cycle metabolism and ammonia detoxification
- Medium chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Fabry disease
- Mitochondrial disease
- Phenylketonuria
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
- Respiratory malformation
- Disorder of carbohydrate metabolism
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal dominant polycystic kidney disease
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
- Nephronophthisis
Supportgroups 2
Glykogenose Deutschland e.V.
Post Office Box Am Römerweg 33e
55270
Essenheim
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Muscular channelopathy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Neuromuscular junction disease
- Autosomal dominant limb-girdle muscular dystrophy
- Juvenile amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis
- Adult-onset distal myopathy due to VCP mutation
- Duchenne and Becker muscular dystrophy
- Myasthenia gravis
- Motor neuron disease
- Bethlem muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Finnish upper limb-onset distal myopathy
- Muscular dystrophy
- Neuromuscular disease