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