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