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
- Phenylketonuria
- Cystic fibrosis
- Maple syrup urine disease
- Mitochondrial trifunctional protein deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Pediatric systemic lupus erythematosus
- Glycogen storage disease
- Juvenile idiopathic arthritis
- Disorder of carnitine cycle and carnitine transport
- Tuberous sclerosis complex
- Rare renal disease
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Primary bone dysplasia
- Medium chain acyl-CoA dehydrogenase deficiency
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Disorder of ketolysis
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fructose metabolism
- Fabry disease
- Hereditary fructose intolerance
- Maple syrup urine disease
- Glucose-galactose malabsorption
- 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
- Short chain acyl-CoA dehydrogenase deficiency
- Hemophilia
- Adenylosuccinate lyase deficiency
- Ornithine transcarbamylase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Argininosuccinic aciduria
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Phenylketonuria
- 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
Universitätsmedizin Mainz Zentrum für Seltene Erkrankungen 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
- Disorder of urea cycle metabolism and ammonia detoxification
- Tyrosinemia type 1
- Mitochondrial disease
- Maple syrup urine disease
- Phenylketonuria
- Glycogen storage disease
- Galactosemia
- Fabry disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Disorder of carnitine cycle and carnitine transport
- Glutaryl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057470
089 440057402
Website
Email
- Neuroferritinopathy
- Mitochondrial disease
- COASY protein-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Neurodegeneration with brain iron accumulation
- Hereditary spastic paraplegia
- Leukodystrophy
- Myasthenia gravis
- Infantile neuroaxonal dystrophy
- Pantothenate kinase-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-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
- Phenylketonuria
- Cystic fibrosis
- Maple syrup urine disease
- Mitochondrial trifunctional protein deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Pediatric systemic lupus erythematosus
- Glycogen storage disease
- Juvenile idiopathic arthritis
- Disorder of carnitine cycle and carnitine transport
- Tuberous sclerosis complex
- Rare renal disease
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Primary bone dysplasia
- Medium chain acyl-CoA dehydrogenase deficiency
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Disorder of ketolysis
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fructose metabolism
- Fabry disease
- Hereditary fructose intolerance
- Maple syrup urine disease
- Glucose-galactose malabsorption
- 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
- Short chain acyl-CoA dehydrogenase deficiency
- Hemophilia
- Adenylosuccinate lyase deficiency
- Ornithine transcarbamylase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Argininosuccinic aciduria
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Phenylketonuria
- 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
Universitätsmedizin Mainz Zentrum für Seltene Erkrankungen 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
- Disorder of urea cycle metabolism and ammonia detoxification
- Tyrosinemia type 1
- Mitochondrial disease
- Maple syrup urine disease
- Phenylketonuria
- Glycogen storage disease
- Galactosemia
- Fabry disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Disorder of carnitine cycle and carnitine transport
- Glutaryl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057470
089 440057402
Website
Email
- Neuroferritinopathy
- Mitochondrial disease
- COASY protein-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Neurodegeneration with brain iron accumulation
- Hereditary spastic paraplegia
- Leukodystrophy
- Myasthenia gravis
- Infantile neuroaxonal dystrophy
- Pantothenate kinase-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
Supportgroups 1
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin