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
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Fabry disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Juvenile idiopathic arthritis
- Rare renal disease
- Glycogen storage disease
- Maple syrup urine disease
- Mitochondrial trifunctional protein deficiency
- Pediatric systemic lupus erythematosus
- Cystic fibrosis
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Disorder of carnitine cycle and carnitine transport
- Primary bone dysplasia
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
- Glycogen storage disease
- Disorder of fructose metabolism
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of ketolysis
- Hereditary fructose intolerance
- 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
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Juvenile idiopathic arthritis
- Ornithine transcarbamylase deficiency
- Hemophilia
- Systemic sclerosis
- Mucopolysaccharidosis type 1
- Phenylketonuria
- Short chain acyl-CoA dehydrogenase deficiency
- Niemann-Pick disease type C
- Carbamoyl-phosphate synthetase 1 deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Adenylosuccinate lyase deficiency
- Behçet disease
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Medizinische Hochschule Hannover Zentrum für Seltene Erkrankungen Hannover
Carl-Neuberg-Straße 1
30625 Hannover
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
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Mitochondrial disease
- Phenylketonuria
- Tyrosinemia type 1
- Medium chain acyl-CoA dehydrogenase deficiency
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Fabry disease
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Mitochondrial membrane protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Huntington disease
- Infantile neuroaxonal dystrophy
- COASY protein-associated neurodegeneration
- Rare ataxia
- Neurodegeneration with brain iron accumulation
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- Beta-propeller protein-associated neurodegeneration
- Leukodystrophy
- Atypical pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Pantothenate kinase-associated neurodegeneration
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
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Fabry disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Juvenile idiopathic arthritis
- Rare renal disease
- Glycogen storage disease
- Maple syrup urine disease
- Mitochondrial trifunctional protein deficiency
- Pediatric systemic lupus erythematosus
- Cystic fibrosis
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Disorder of carnitine cycle and carnitine transport
- Primary bone dysplasia
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
- Glycogen storage disease
- Disorder of fructose metabolism
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of ketolysis
- Hereditary fructose intolerance
- 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
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Juvenile idiopathic arthritis
- Ornithine transcarbamylase deficiency
- Hemophilia
- Systemic sclerosis
- Mucopolysaccharidosis type 1
- Phenylketonuria
- Short chain acyl-CoA dehydrogenase deficiency
- Niemann-Pick disease type C
- Carbamoyl-phosphate synthetase 1 deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Adenylosuccinate lyase deficiency
- Behçet disease
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Medizinische Hochschule Hannover Zentrum für Seltene Erkrankungen Hannover
Carl-Neuberg-Straße 1
30625 Hannover
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
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Mitochondrial disease
- Phenylketonuria
- Tyrosinemia type 1
- Medium chain acyl-CoA dehydrogenase deficiency
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Fabry disease
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Mitochondrial membrane protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Huntington disease
- Infantile neuroaxonal dystrophy
- COASY protein-associated neurodegeneration
- Rare ataxia
- Neurodegeneration with brain iron accumulation
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- Beta-propeller protein-associated neurodegeneration
- Leukodystrophy
- Atypical pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Pantothenate kinase-associated neurodegeneration
Supportgroups 1
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin