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 fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Disorder of galactose metabolism
- Maple syrup urine disease
- Disorder of ketolysis
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Primary bone dysplasia
- Fabry disease
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Rare renal disease
- Disorder of carnitine cycle and carnitine transport
- Mitochondrial trifunctional protein deficiency
- Maple syrup urine disease
- Juvenile idiopathic arthritis
- Pediatric systemic lupus erythematosus
- Cystic fibrosis
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Medium chain acyl-CoA dehydrogenase deficiency
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
- Hemophilia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Niemann-Pick disease type C
- Ornithine transcarbamylase deficiency
- Adenylosuccinate lyase deficiency
- Argininosuccinic aciduria
- Mucopolysaccharidosis type 1
- Phenylketonuria
- Juvenile idiopathic arthritis
- Carbamoyl-phosphate synthetase 1 deficiency
- Behçet disease
- Systemic sclerosis
- Short chain acyl-CoA dehydrogenase deficiency
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Universitätsmedizin Mainz Zentrum für Seltene Erkrankungen 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 440057400
089 440057402
Website
Email
- Mitochondrial disease
- Neurodegeneration with brain iron accumulation
- Myasthenia gravis
- Classic pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Neuroferritinopathy
- Atypical pantothenate kinase-associated neurodegeneration
- Hereditary spastic paraplegia
- Mitochondrial membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Leukodystrophy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
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 urea cycle metabolism and ammonia detoxification
- Very long chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Disorder of carnitine cycle and carnitine transport
- Tyrosinemia type 1
- Maple syrup urine disease
- Fabry disease
- Glycogen storage disease
- Mitochondrial disease
- Phenylketonuria
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 fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Disorder of galactose metabolism
- Maple syrup urine disease
- Disorder of ketolysis
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Primary bone dysplasia
- Fabry disease
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Rare renal disease
- Disorder of carnitine cycle and carnitine transport
- Mitochondrial trifunctional protein deficiency
- Maple syrup urine disease
- Juvenile idiopathic arthritis
- Pediatric systemic lupus erythematosus
- Cystic fibrosis
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Medium chain acyl-CoA dehydrogenase deficiency
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
- Hemophilia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Niemann-Pick disease type C
- Ornithine transcarbamylase deficiency
- Adenylosuccinate lyase deficiency
- Argininosuccinic aciduria
- Mucopolysaccharidosis type 1
- Phenylketonuria
- Juvenile idiopathic arthritis
- Carbamoyl-phosphate synthetase 1 deficiency
- Behçet disease
- Systemic sclerosis
- Short chain acyl-CoA dehydrogenase deficiency
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Universitätsmedizin Mainz Zentrum für Seltene Erkrankungen 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 440057400
089 440057402
Website
Email
- Mitochondrial disease
- Neurodegeneration with brain iron accumulation
- Myasthenia gravis
- Classic pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Neuroferritinopathy
- Atypical pantothenate kinase-associated neurodegeneration
- Hereditary spastic paraplegia
- Mitochondrial membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Leukodystrophy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
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 urea cycle metabolism and ammonia detoxification
- Very long chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Disorder of carnitine cycle and carnitine transport
- Tyrosinemia type 1
- Maple syrup urine disease
- Fabry disease
- Glycogen storage disease
- Mitochondrial disease
- Phenylketonuria
Supportgroups 1
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin