Polyglucosan body myopathy type 2
All Entries 6
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
- Amyotrophic lateral sclerosis
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
- Dermatomyositis
- Botulism
- Juvenile myasthenia gravis
- Charcot-Marie-Tooth disease type 1
- Limb-girdle muscular dystrophy
- Duchenne and Becker muscular dystrophy
- Rhabdomyosarcoma
- Myotonic dystrophy
- Malignant hyperthermia of anesthesia
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Mathildenstraße 1
79106 Freiburg
- Hereditary fructose intolerance
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Gluconeogenesis disorder
- Glycogen storage disease
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of ketolysis
- Maple syrup urine disease
- 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
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
- Mitochondrial disease
- Disorder of carnitine cycle and carnitine transport
- Tyrosinemia type 1
- Maple syrup urine disease
- Very long chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Disorder of urea cycle metabolism and ammonia detoxification
- Galactosemia
- Glycogen storage disease
- Fabry 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
- Nephronophthisis
- Respiratory malformation
- Disorder of carbohydrate metabolism
- Autosomal dominant polycystic kidney disease
- Disorder of amino acid and other organic acid metabolism
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
- Primary ciliary dyskinesia
- Rare epilepsy
- Disorder of lipid metabolism
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Amyotrophic lateral sclerosis type 4
- Amyotrophic lateral sclerosis
- Muscular channelopathy
- Neuromuscular disease
- Bethlem muscular dystrophy
- Muscular dystrophy
- Autosomal dominant limb-girdle muscular dystrophy
- Finnish upper limb-onset distal myopathy
- Adult-onset distal myopathy due to VCP mutation
- Duchenne and Becker muscular dystrophy
- Juvenile amyotrophic lateral sclerosis
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Neuromuscular junction disease
- Motor neuron disease
- Myasthenia gravis
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
- Amyotrophic lateral sclerosis
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
- Dermatomyositis
- Botulism
- Juvenile myasthenia gravis
- Charcot-Marie-Tooth disease type 1
- Limb-girdle muscular dystrophy
- Duchenne and Becker muscular dystrophy
- Rhabdomyosarcoma
- Myotonic dystrophy
- Malignant hyperthermia of anesthesia
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Mathildenstraße 1
79106 Freiburg
- Hereditary fructose intolerance
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Gluconeogenesis disorder
- Glycogen storage disease
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of ketolysis
- Maple syrup urine disease
- 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
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
- Mitochondrial disease
- Disorder of carnitine cycle and carnitine transport
- Tyrosinemia type 1
- Maple syrup urine disease
- Very long chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Disorder of urea cycle metabolism and ammonia detoxification
- Galactosemia
- Glycogen storage disease
- Fabry 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
- Nephronophthisis
- Respiratory malformation
- Disorder of carbohydrate metabolism
- Autosomal dominant polycystic kidney disease
- Disorder of amino acid and other organic acid metabolism
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
- Primary ciliary dyskinesia
- Rare epilepsy
- Disorder of lipid metabolism
Supportgroups 1
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Amyotrophic lateral sclerosis type 4
- Amyotrophic lateral sclerosis
- Muscular channelopathy
- Neuromuscular disease
- Bethlem muscular dystrophy
- Muscular dystrophy
- Autosomal dominant limb-girdle muscular dystrophy
- Finnish upper limb-onset distal myopathy
- Adult-onset distal myopathy due to VCP mutation
- Duchenne and Becker muscular dystrophy
- Juvenile amyotrophic lateral sclerosis
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Neuromuscular junction disease
- Motor neuron disease
- Myasthenia gravis