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