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
- Rare renal disease
- Primary bone dysplasia
- Medium chain acyl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Glycogen storage disease
- Maple syrup urine disease
- Mitochondrial trifunctional protein deficiency
- Pediatric systemic lupus erythematosus
- Juvenile idiopathic arthritis
- Cystic fibrosis
- Disorder of carnitine cycle and carnitine transport
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
- Maple syrup urine disease
- Disorder of ketolysis
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Glucose-galactose malabsorption
- Hereditary fructose intolerance
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Disorder of fructose metabolism
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
- Argininosuccinic aciduria
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Niemann-Pick disease type C
- Ornithine transcarbamylase deficiency
- Adenylosuccinate lyase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Behçet disease
- Short chain acyl-CoA dehydrogenase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Phenylketonuria
- Systemic sclerosis
- Mucopolysaccharidosis type 1
- Juvenile idiopathic arthritis
- Hemophilia
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 LMU Klinikum München
Lindwurmstr. 4
80337 München
- Fabry disease
- Galactosemia
- Tyrosinemia type 1
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Phenylketonuria
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Very long chain acyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
- Glutaryl-CoA dehydrogenase deficiency
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
- Huntington disease
- Pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Infantile neuroaxonal dystrophy
- Rare ataxia
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
- Rare renal disease
- Primary bone dysplasia
- Medium chain acyl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Glycogen storage disease
- Maple syrup urine disease
- Mitochondrial trifunctional protein deficiency
- Pediatric systemic lupus erythematosus
- Juvenile idiopathic arthritis
- Cystic fibrosis
- Disorder of carnitine cycle and carnitine transport
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
- Maple syrup urine disease
- Disorder of ketolysis
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Glucose-galactose malabsorption
- Hereditary fructose intolerance
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Disorder of fructose metabolism
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
- Argininosuccinic aciduria
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Niemann-Pick disease type C
- Ornithine transcarbamylase deficiency
- Adenylosuccinate lyase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Behçet disease
- Short chain acyl-CoA dehydrogenase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Phenylketonuria
- Systemic sclerosis
- Mucopolysaccharidosis type 1
- Juvenile idiopathic arthritis
- Hemophilia
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 LMU Klinikum München
Lindwurmstr. 4
80337 München
- Fabry disease
- Galactosemia
- Tyrosinemia type 1
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Phenylketonuria
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Very long chain acyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
- Glutaryl-CoA dehydrogenase deficiency
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
- Huntington disease
- Pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Infantile neuroaxonal dystrophy
- Rare ataxia
Supportgroups 1
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin