Carnitine palmitoyl transferase 1A deficiency
All Entries 8
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of fructose metabolism
- Disorder of ketolysis
- Gluconeogenesis disorder
- Glycogen storage disease
- Fabry disease
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of galactose metabolism
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Tuberous sclerosis complex
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial trifunctional protein deficiency
- Rare renal disease
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Pediatric systemic lupus erythematosus
- Cystic fibrosis
- Glycogen storage disease
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
- Juvenile idiopathic arthritis
- Primary bone dysplasia
Klinik und Poliklinik für Kinder- und Jugendmedizin - Pädiatrie I am Universitätsklinikum Halle
Universitätsklinikum Halle (Saale)
Ernst-Grube-Straße 40
06120 Halle (Saale)
0345 557 2388
0345 557 2389
Website
Email
- Carbamoyl-phosphate synthetase 1 deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Short chain acyl-CoA dehydrogenase deficiency
- Hemophilia
- Phenylketonuria
- Adenylosuccinate lyase deficiency
- Ornithine transcarbamylase deficiency
- Argininosuccinic aciduria
- Medium chain acyl-CoA dehydrogenase deficiency
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Medizinische Hochschule Hannover Zentrum für Seltene Erkrankungen Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Zentrum für Seltene Erkrankungen Mainz Universitätsmedizin Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057470
089 440057402
Website
Email
- Mitochondrial disease
- Neuroferritinopathy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Rare ataxia
- Neurodegeneration with brain iron accumulation
- Hereditary spastic paraplegia
- Leukodystrophy
- Infantile neuroaxonal dystrophy
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Myasthenia gravis
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
- Disorder of carnitine cycle and carnitine transport
- Mitochondrial disease
- Maple syrup urine disease
- Tyrosinemia type 1
- Glutaryl-CoA dehydrogenase deficiency
- Galactosemia
- Very long chain acyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Disorder of urea cycle metabolism and ammonia detoxification
- Phenylketonuria
- Fabry disease
- Glycogen storage disease
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin
Parent facilities 0
Genetic Advices 0
Care facilities 7
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of fructose metabolism
- Disorder of ketolysis
- Gluconeogenesis disorder
- Glycogen storage disease
- Fabry disease
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of galactose metabolism
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Tuberous sclerosis complex
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial trifunctional protein deficiency
- Rare renal disease
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Pediatric systemic lupus erythematosus
- Cystic fibrosis
- Glycogen storage disease
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
- Juvenile idiopathic arthritis
- Primary bone dysplasia
Klinik und Poliklinik für Kinder- und Jugendmedizin - Pädiatrie I am Universitätsklinikum Halle
Universitätsklinikum Halle (Saale)
Ernst-Grube-Straße 40
06120 Halle (Saale)
0345 557 2388
0345 557 2389
Website
Email
- Carbamoyl-phosphate synthetase 1 deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Short chain acyl-CoA dehydrogenase deficiency
- Hemophilia
- Phenylketonuria
- Adenylosuccinate lyase deficiency
- Ornithine transcarbamylase deficiency
- Argininosuccinic aciduria
- Medium chain acyl-CoA dehydrogenase deficiency
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Medizinische Hochschule Hannover Zentrum für Seltene Erkrankungen Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Zentrum für Seltene Erkrankungen Mainz Universitätsmedizin Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057470
089 440057402
Website
Email
- Mitochondrial disease
- Neuroferritinopathy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Rare ataxia
- Neurodegeneration with brain iron accumulation
- Hereditary spastic paraplegia
- Leukodystrophy
- Infantile neuroaxonal dystrophy
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Myasthenia gravis
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
- Disorder of carnitine cycle and carnitine transport
- Mitochondrial disease
- Maple syrup urine disease
- Tyrosinemia type 1
- Glutaryl-CoA dehydrogenase deficiency
- Galactosemia
- Very long chain acyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Disorder of urea cycle metabolism and ammonia detoxification
- Phenylketonuria
- Fabry disease
- Glycogen storage disease
Supportgroups 1
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin