Polyglucosan body myopathy type 2
All Entries 6
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
- Dermatomyositis
- Limb-girdle muscular dystrophy
- Botulism
- Malignant hyperthermia of anesthesia
- Duchenne and Becker muscular dystrophy
- Lambert-Eaton myasthenic syndrome
- Charcot-Marie-Tooth disease type 1
- Rhabdomyosarcoma
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Guillain-Barré syndrome
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
- Glycogen storage disease
- Gluconeogenesis disorder
- Disorder of galactose metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of branched-chain amino acid metabolism
- Maple syrup urine disease
- Disorder of ketolysis
- Glucose-galactose malabsorption
- Disorder of fructose metabolism
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
Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München LMU Klinikum München
Lindwurmstr. 4
80337 München
- Galactosemia
- Fabry disease
- Glutaryl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Tyrosinemia type 1
- Phenylketonuria
- Mitochondrial disease
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Very long chain acyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- 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
- Autosomal recessive polycystic kidney disease
- Disorder of amino acid and other organic acid metabolism
- Nephronophthisis
- Cystic fibrosis
- Disorder of carbohydrate metabolism
- Autosomal dominant polycystic kidney disease
- Primary ciliary dyskinesia
- Rare epilepsy
- Disorder of lipid metabolism
- Respiratory malformation
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
- Finnish upper limb-onset distal myopathy
- Muscular dystrophy
- Neuromuscular disease
- Bethlem muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- 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
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
- Dermatomyositis
- Limb-girdle muscular dystrophy
- Botulism
- Malignant hyperthermia of anesthesia
- Duchenne and Becker muscular dystrophy
- Lambert-Eaton myasthenic syndrome
- Charcot-Marie-Tooth disease type 1
- Rhabdomyosarcoma
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Guillain-Barré syndrome
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
- Glycogen storage disease
- Gluconeogenesis disorder
- Disorder of galactose metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of branched-chain amino acid metabolism
- Maple syrup urine disease
- Disorder of ketolysis
- Glucose-galactose malabsorption
- Disorder of fructose metabolism
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
Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München LMU Klinikum München
Lindwurmstr. 4
80337 München
- Galactosemia
- Fabry disease
- Glutaryl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Tyrosinemia type 1
- Phenylketonuria
- Mitochondrial disease
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Very long chain acyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- 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
- Autosomal recessive polycystic kidney disease
- Disorder of amino acid and other organic acid metabolism
- Nephronophthisis
- Cystic fibrosis
- Disorder of carbohydrate metabolism
- Autosomal dominant polycystic kidney disease
- Primary ciliary dyskinesia
- Rare epilepsy
- Disorder of lipid metabolism
- Respiratory malformation
Supportgroups 1
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
- Finnish upper limb-onset distal myopathy
- Muscular dystrophy
- Neuromuscular disease
- Bethlem muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- 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