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