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