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for People with Rare Diseases

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Pyruvate dehydrogenase E3 deficiency

Further information on this disease (ORPHANET)

List Contact us

All Entries 4

13.781189918518068 51.05689326744705 Universitäts NeuroMuskuläres Centrum am Universitätsklinikum Dresden

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
Guillain-Barré syndrome
Lambert-Eaton myasthenic syndrome
Juvenile myasthenia gravis
Limb-girdle muscular dystrophy
Dermatomyositis
Duchenne and Becker muscular dystrophy
Charcot-Marie-Tooth disease type 1
Rhabdomyosarcoma
Botulism

7.8367259501101225 48.004833372302414 Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg

Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg

Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)

Breisacherstr. 62
79106 Freiburg

0761 27043000
Website
Email

0761 27043000
Website
Email

Stoffwechselsprechstunde

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Maple syrup urine disease
Glucose-galactose malabsorption
Disorder of branched-chain amino acid metabolism
Disorder of galactose metabolism
Disorder of ketolysis
Disorder of fructose metabolism
Hereditary fructose intolerance
Fabry disease
Disorder of fatty acid oxidation and ketone body metabolism
Gluconeogenesis disorder
Glycogen storage disease

2

11.5623312 48.1328805 Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München

Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München

LMU Klinikum München

Ziemssenstr. 1a
80336 München

089 440057470
089 440057402
Website
Email

Integriertes Myasthenie-Zentrum
Spezialambulanz für erbliche neuromuskuläre Erkrankungen und Neurogenetik

COASY protein-associated neurodegeneration
Beta-propeller protein-associated neurodegeneration
Mitochondrial disease
Neuroferritinopathy
Classic pantothenate kinase-associated neurodegeneration
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation
Rare ataxia
Hereditary spastic paraplegia
Leukodystrophy
Atypical pantothenate kinase-associated neurodegeneration
Myasthenia gravis
Mitochondrial membrane protein-associated neurodegeneration
Huntington disease
Pantothenate kinase-associated neurodegeneration

1

7.7276396 48.0248263 Deutsche Gesellschaft für Muskelkranke e.V. (DGM)

Deutsche Gesellschaft für Muskelkranke e.V. (DGM)

Im Moos 4

79112 Freiburg

07665 94470
Website
Email

Amyotrophic lateral sclerosis
Proximal spinal muscular atrophy
Poliomyelitis
Muscular dystrophy
Myotonic dystrophy
Inclusion body myositis
Dermatomyositis
Polymyositis
Mitochondrial myopathy

Parent facilities 0

Genetic Advices 0

Care facilities 3

13.781189918518068 51.05689326744705 Universitäts NeuroMuskuläres Centrum am Universitätsklinikum Dresden

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
Guillain-Barré syndrome
Lambert-Eaton myasthenic syndrome
Juvenile myasthenia gravis
Limb-girdle muscular dystrophy
Dermatomyositis
Duchenne and Becker muscular dystrophy
Charcot-Marie-Tooth disease type 1
Rhabdomyosarcoma
Botulism

7.8367259501101225 48.004833372302414 Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg

Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg

Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)

Breisacherstr. 62
79106 Freiburg

0761 27043000
Website
Email

0761 27043000
Website
Email

Stoffwechselsprechstunde

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Maple syrup urine disease
Glucose-galactose malabsorption
Disorder of branched-chain amino acid metabolism
Disorder of galactose metabolism
Disorder of ketolysis
Disorder of fructose metabolism
Hereditary fructose intolerance
Fabry disease
Disorder of fatty acid oxidation and ketone body metabolism
Gluconeogenesis disorder
Glycogen storage disease

2

11.5623312 48.1328805 Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München

Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München

LMU Klinikum München

Ziemssenstr. 1a
80336 München

089 440057470
089 440057402
Website
Email

Integriertes Myasthenie-Zentrum
Spezialambulanz für erbliche neuromuskuläre Erkrankungen und Neurogenetik

COASY protein-associated neurodegeneration
Beta-propeller protein-associated neurodegeneration
Mitochondrial disease
Neuroferritinopathy
Classic pantothenate kinase-associated neurodegeneration
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation
Rare ataxia
Hereditary spastic paraplegia
Leukodystrophy
Atypical pantothenate kinase-associated neurodegeneration
Myasthenia gravis
Mitochondrial membrane protein-associated neurodegeneration
Huntington disease
Pantothenate kinase-associated neurodegeneration

1

Supportgroups 1

7.7276396 48.0248263 Deutsche Gesellschaft für Muskelkranke e.V. (DGM)

Deutsche Gesellschaft für Muskelkranke e.V. (DGM)

Im Moos 4

79112 Freiburg

07665 94470
Website
Email

Amyotrophic lateral sclerosis
Proximal spinal muscular atrophy
Poliomyelitis
Muscular dystrophy
Myotonic dystrophy
Inclusion body myositis
Dermatomyositis
Polymyositis
Mitochondrial myopathy

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