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
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Charcot-Marie-Tooth disease type 1
- Malignant hyperthermia of anesthesia
- Rhabdomyosarcoma
- Limb-girdle muscular dystrophy
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
- Dermatomyositis
- Botulism
- Duchenne and Becker muscular dystrophy
- Juvenile myasthenia gravis
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Mathildenstraße 1
79106 Freiburg
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of ketolysis
- Disorder of fructose metabolism
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
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
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
Lindwurmstr. 4
80337 München
- Glutaryl-CoA dehydrogenase deficiency
- Galactosemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Disorder of urea cycle metabolism and ammonia detoxification
- Tyrosinemia type 1
- Disorder of carnitine cycle and carnitine transport
- Mitochondrial disease
- Glycogen storage disease
- Maple syrup urine disease
- Fabry disease
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
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Nephronophthisis
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
- Disorder of amino acid and other organic acid metabolism
- Disorder of lipid metabolism
- Respiratory malformation
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Muscular channelopathy
- Neuromuscular junction disease
- Amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Myasthenia gravis
- Juvenile amyotrophic lateral sclerosis
- Motor neuron disease
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Duchenne and Becker muscular dystrophy
- Neuromuscular disease
- Bethlem muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
- Muscular dystrophy
- Finnish upper limb-onset distal myopathy
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
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Charcot-Marie-Tooth disease type 1
- Malignant hyperthermia of anesthesia
- Rhabdomyosarcoma
- Limb-girdle muscular dystrophy
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
- Dermatomyositis
- Botulism
- Duchenne and Becker muscular dystrophy
- Juvenile myasthenia gravis
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Mathildenstraße 1
79106 Freiburg
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of ketolysis
- Disorder of fructose metabolism
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
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
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
Lindwurmstr. 4
80337 München
- Glutaryl-CoA dehydrogenase deficiency
- Galactosemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Disorder of urea cycle metabolism and ammonia detoxification
- Tyrosinemia type 1
- Disorder of carnitine cycle and carnitine transport
- Mitochondrial disease
- Glycogen storage disease
- Maple syrup urine disease
- Fabry disease
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
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Nephronophthisis
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
- Disorder of amino acid and other organic acid metabolism
- Disorder of lipid metabolism
- Respiratory malformation
Supportgroups 1
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Muscular channelopathy
- Neuromuscular junction disease
- Amyotrophic lateral sclerosis
- Autosomal dominant limb-girdle muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Myasthenia gravis
- Juvenile amyotrophic lateral sclerosis
- Motor neuron disease
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Duchenne and Becker muscular dystrophy
- Neuromuscular disease
- Bethlem muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
- Muscular dystrophy
- Finnish upper limb-onset distal myopathy