Carnitine palmitoyl transferase 1A deficiency
All Entries 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
- Cystic fibrosis
- Phenylketonuria
- Disorder of carnitine cycle and carnitine transport
- Glycogen storage disease
- Fabry disease
- 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
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of fructose metabolism
- Glycogen storage disease
- Disorder of ketolysis
- Maple syrup urine disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Hyperinsulinism due to short chain 3-hydroxylacyl-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
- Behçet disease
- Systemic sclerosis
- Juvenile idiopathic arthritis
- Carnitine palmitoyl transferase 1A deficiency
- Phenylketonuria
- Short chain acyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Niemann-Pick disease type C
- Ornithine transcarbamylase deficiency
- Adenylosuccinate lyase deficiency
- Argininosuccinic aciduria
- Hemophilia
- Mucopolysaccharidosis type 1
- Long chain 3-hydroxyacyl-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
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
- Leukodystrophy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Rare ataxia
- Mitochondrial membrane protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Atypical pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am LMU Klinikum München
LMU Klinikum München Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum
Lindwurmstr. 4
80337 München
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Very long chain acyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Tyrosinemia type 1
- Phenylketonuria
- Mitochondrial disease
- Fabry disease
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin
Parent facilities 0
Genetic Advices 0
Care facilities 6
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
- Cystic fibrosis
- Phenylketonuria
- Disorder of carnitine cycle and carnitine transport
- Glycogen storage disease
- Fabry disease
- 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
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of fructose metabolism
- Glycogen storage disease
- Disorder of ketolysis
- Maple syrup urine disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Hyperinsulinism due to short chain 3-hydroxylacyl-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
- Behçet disease
- Systemic sclerosis
- Juvenile idiopathic arthritis
- Carnitine palmitoyl transferase 1A deficiency
- Phenylketonuria
- Short chain acyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Niemann-Pick disease type C
- Ornithine transcarbamylase deficiency
- Adenylosuccinate lyase deficiency
- Argininosuccinic aciduria
- Hemophilia
- Mucopolysaccharidosis type 1
- Long chain 3-hydroxyacyl-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
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
- Leukodystrophy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Rare ataxia
- Mitochondrial membrane protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Atypical pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am LMU Klinikum München
LMU Klinikum München Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum
Lindwurmstr. 4
80337 München
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Very long chain acyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Tyrosinemia type 1
- Phenylketonuria
- Mitochondrial disease
- Fabry disease
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
Supportgroups 1
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin