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
- Fabry disease
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Cystic fibrosis
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
- Juvenile idiopathic arthritis
- Pediatric systemic lupus erythematosus
- Primary bone dysplasia
- Very long chain acyl-CoA dehydrogenase deficiency
- Rare renal disease
- Glycogen storage disease
- Phenylketonuria
- Medium chain acyl-CoA dehydrogenase deficiency
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of branched-chain amino acid metabolism
- Glucose-galactose malabsorption
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of ketolysis
- Maple syrup urine disease
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Disorder of fructose 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
- Mucopolysaccharidosis type 1
- Phenylketonuria
- Short chain acyl-CoA dehydrogenase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Niemann-Pick disease type C
- Adenylosuccinate lyase deficiency
- Behçet disease
- Carbamoyl-phosphate synthetase 1 deficiency
- Hemophilia
- Medium chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Juvenile idiopathic arthritis
- Ornithine transcarbamylase deficiency
- Systemic sclerosis
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
- Neuroferritinopathy
- Mitochondrial disease
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Rare ataxia
- Neurodegeneration with brain iron accumulation
- Hereditary spastic paraplegia
- Atypical pantothenate kinase-associated neurodegeneration
- Huntington disease
- Leukodystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am LMU Klinikum München
Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München
Lindwurmstr. 4
80337 München
- Phenylketonuria
- Glycogen storage disease
- Very long chain acyl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Tyrosinemia type 1
- Glutaryl-CoA dehydrogenase deficiency
- Galactosemia
- Fabry disease
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
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
- Fabry disease
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Cystic fibrosis
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
- Juvenile idiopathic arthritis
- Pediatric systemic lupus erythematosus
- Primary bone dysplasia
- Very long chain acyl-CoA dehydrogenase deficiency
- Rare renal disease
- Glycogen storage disease
- Phenylketonuria
- Medium chain acyl-CoA dehydrogenase deficiency
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of branched-chain amino acid metabolism
- Glucose-galactose malabsorption
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of ketolysis
- Maple syrup urine disease
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Disorder of fructose 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
- Mucopolysaccharidosis type 1
- Phenylketonuria
- Short chain acyl-CoA dehydrogenase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Niemann-Pick disease type C
- Adenylosuccinate lyase deficiency
- Behçet disease
- Carbamoyl-phosphate synthetase 1 deficiency
- Hemophilia
- Medium chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Juvenile idiopathic arthritis
- Ornithine transcarbamylase deficiency
- Systemic sclerosis
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
- Neuroferritinopathy
- Mitochondrial disease
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Rare ataxia
- Neurodegeneration with brain iron accumulation
- Hereditary spastic paraplegia
- Atypical pantothenate kinase-associated neurodegeneration
- Huntington disease
- Leukodystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am LMU Klinikum München
Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München
Lindwurmstr. 4
80337 München
- Phenylketonuria
- Glycogen storage disease
- Very long chain acyl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Tyrosinemia type 1
- Glutaryl-CoA dehydrogenase deficiency
- Galactosemia
- Fabry disease
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
Supportgroups 1
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin