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
- Guillain-Barré syndrome
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Dermatomyositis
- Charcot-Marie-Tooth disease type 1
- Lambert-Eaton myasthenic syndrome
- Limb-girdle muscular dystrophy
- Botulism
- Rhabdomyosarcoma
- Malignant hyperthermia of anesthesia
- Duchenne and Becker muscular dystrophy
- Juvenile myasthenia gravis
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of ketolysis
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- 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
Lindwurmstr. 4
80337 München
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Fabry disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Tyrosinemia type 1
- Mitochondrial disease
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
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
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
- Disorder of amino acid and other organic acid metabolism
- Disorder of lipid metabolism
- Respiratory malformation
- Nephronophthisis
- Disorder of carbohydrate metabolism
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal dominant polycystic kidney disease
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Neuromuscular junction disease
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Autosomal dominant limb-girdle muscular dystrophy
- Muscular channelopathy
- Myasthenia gravis
- Juvenile amyotrophic lateral sclerosis
- Duchenne and Becker muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Bethlem muscular dystrophy
- Motor neuron disease
- Neuromuscular disease
- Muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
- Finnish upper limb-onset distal myopathy
- Amyotrophic lateral sclerosis
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
- Guillain-Barré syndrome
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Dermatomyositis
- Charcot-Marie-Tooth disease type 1
- Lambert-Eaton myasthenic syndrome
- Limb-girdle muscular dystrophy
- Botulism
- Rhabdomyosarcoma
- Malignant hyperthermia of anesthesia
- Duchenne and Becker muscular dystrophy
- Juvenile myasthenia gravis
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of ketolysis
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- 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
Lindwurmstr. 4
80337 München
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Fabry disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Tyrosinemia type 1
- Mitochondrial disease
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
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
- Cystic fibrosis
- Autosomal recessive polycystic kidney disease
- Disorder of amino acid and other organic acid metabolism
- Disorder of lipid metabolism
- Respiratory malformation
- Nephronophthisis
- Disorder of carbohydrate metabolism
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal dominant polycystic kidney disease
Supportgroups 1
Deutsche Muskelschwund-Hilfe e.V. (DMH)
Alstertor 20
20095
Hamburg
- Neuromuscular junction disease
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Autosomal dominant limb-girdle muscular dystrophy
- Muscular channelopathy
- Myasthenia gravis
- Juvenile amyotrophic lateral sclerosis
- Duchenne and Becker muscular dystrophy
- Amyotrophic lateral sclerosis type 4
- Bethlem muscular dystrophy
- Motor neuron disease
- Neuromuscular disease
- Muscular dystrophy
- Adult-onset distal myopathy due to VCP mutation
- Finnish upper limb-onset distal myopathy
- Amyotrophic lateral sclerosis