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
- Pediatric systemic lupus erythematosus
- Cystic fibrosis
- Mitochondrial trifunctional protein deficiency
- Maple syrup urine disease
- Juvenile idiopathic arthritis
- Disorder of carnitine cycle and carnitine transport
- Very long chain acyl-CoA dehydrogenase deficiency
- Primary bone dysplasia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Rare renal disease
- Fabry disease
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Maple syrup urine disease
- Disorder of ketolysis
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fructose metabolism
- Glycogen storage disease
- Disorder of branched-chain amino acid metabolism
- Glucose-galactose malabsorption
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of galactose metabolism
- Gluconeogenesis disorder
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
- Phenylketonuria
- Mucopolysaccharidosis type 1
- Short chain acyl-CoA dehydrogenase deficiency
- Niemann-Pick disease type C
- Adenylosuccinate lyase deficiency
- Behçet disease
- Carbamoyl-phosphate synthetase 1 deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Hemophilia
- Medium chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Juvenile idiopathic arthritis
- Ornithine transcarbamylase deficiency
- Systemic sclerosis
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
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
- Fabry disease
- Glutaryl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Galactosemia
- Tyrosinemia type 1
- Disorder of urea cycle metabolism and ammonia detoxification
- Glycogen storage disease
- Very long chain acyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Atypical pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Infantile neuroaxonal dystrophy
- Beta-propeller protein-associated neurodegeneration
- Neuroferritinopathy
- Mitochondrial disease
- COASY protein-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Myasthenia gravis
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
- Pediatric systemic lupus erythematosus
- Cystic fibrosis
- Mitochondrial trifunctional protein deficiency
- Maple syrup urine disease
- Juvenile idiopathic arthritis
- Disorder of carnitine cycle and carnitine transport
- Very long chain acyl-CoA dehydrogenase deficiency
- Primary bone dysplasia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Rare renal disease
- Fabry disease
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Maple syrup urine disease
- Disorder of ketolysis
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fructose metabolism
- Glycogen storage disease
- Disorder of branched-chain amino acid metabolism
- Glucose-galactose malabsorption
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of galactose metabolism
- Gluconeogenesis disorder
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
- Phenylketonuria
- Mucopolysaccharidosis type 1
- Short chain acyl-CoA dehydrogenase deficiency
- Niemann-Pick disease type C
- Adenylosuccinate lyase deficiency
- Behçet disease
- Carbamoyl-phosphate synthetase 1 deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Hemophilia
- Medium chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Juvenile idiopathic arthritis
- Ornithine transcarbamylase deficiency
- Systemic sclerosis
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
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
- Fabry disease
- Glutaryl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Galactosemia
- Tyrosinemia type 1
- Disorder of urea cycle metabolism and ammonia detoxification
- Glycogen storage disease
- Very long chain acyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Atypical pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Infantile neuroaxonal dystrophy
- Beta-propeller protein-associated neurodegeneration
- Neuroferritinopathy
- Mitochondrial disease
- COASY protein-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Myasthenia gravis
Supportgroups 1
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin