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
- Charcot-Marie-Tooth disease type 1
- Malignant hyperthermia of anesthesia
- Rhabdomyosarcoma
- Botulism
- Myotonic dystrophy
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
- Limb-girdle muscular dystrophy
- Dermatomyositis
- Duchenne and Becker muscular dystrophy
- Amyotrophic lateral sclerosis
- Juvenile myasthenia gravis
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
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Glucose-galactose malabsorption
- Disorder of ketolysis
- Maple syrup urine disease
- Glycogen storage disease
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- 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
Lindwurmstr. 4
80337 München
- Glutaryl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Fabry disease
- Galactosemia
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Tyrosinemia type 1
- Mitochondrial disease
- Disorder of carnitine cycle and carnitine transport
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Maple syrup urine disease
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
- Disorder of amino acid and other organic acid metabolism
- Disorder of lipid metabolism
- Disorder of carbohydrate metabolism
- Nephronophthisis
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal dominant polycystic kidney disease
- 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
UniversitätsCentrum für Seltene Erkrankungen Dresden (USE) Universitätsklinikum Carl Gustav Carus Dresden
Fetscherstr. 74
01307 Dresden
0351 4583876
0351 4585802
Website
- Charcot-Marie-Tooth disease type 1
- Malignant hyperthermia of anesthesia
- Rhabdomyosarcoma
- Botulism
- Myotonic dystrophy
- Guillain-Barré syndrome
- Lambert-Eaton myasthenic syndrome
- Limb-girdle muscular dystrophy
- Dermatomyositis
- Duchenne and Becker muscular dystrophy
- Amyotrophic lateral sclerosis
- Juvenile myasthenia gravis
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
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Glucose-galactose malabsorption
- Disorder of ketolysis
- Maple syrup urine disease
- Glycogen storage disease
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- 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
Lindwurmstr. 4
80337 München
- Glutaryl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Fabry disease
- Galactosemia
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Tyrosinemia type 1
- Mitochondrial disease
- Disorder of carnitine cycle and carnitine transport
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Maple syrup urine disease
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
- Disorder of amino acid and other organic acid metabolism
- Disorder of lipid metabolism
- Disorder of carbohydrate metabolism
- Nephronophthisis
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal dominant polycystic kidney disease
- 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