Carnitine palmitoyl transferase 1A deficiency
All Entries 7
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 für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Glycogen storage disease
- Primary bone dysplasia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Disorder of carnitine cycle and carnitine transport
- Juvenile idiopathic arthritis
- Fabry disease
- Phenylketonuria
- Cystic fibrosis
- Rare renal disease
- Mitochondrial trifunctional protein deficiency
- Pediatric systemic lupus erythematosus
- Maple syrup urine disease
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
- Medium chain acyl-CoA dehydrogenase deficiency
- Hemophilia
- Niemann-Pick disease type C
- Ornithine transcarbamylase deficiency
- Adenylosuccinate lyase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Short chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Juvenile idiopathic arthritis
- Behçet disease
- Systemic sclerosis
- Carbamoyl-phosphate synthetase 1 deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Mucopolysaccharidosis type 1
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
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
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Phenylketonuria
- Mitochondrial disease
- 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
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Rare ataxia
- Neuroferritinopathy
- COASY protein-associated neurodegeneration
- Mitochondrial disease
- Neurodegeneration with brain iron accumulation
- Pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Beta-propeller protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Huntington disease
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin
Parent facilities 0
Genetic Advices 0
Care facilities 6
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 für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Glycogen storage disease
- Primary bone dysplasia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Disorder of carnitine cycle and carnitine transport
- Juvenile idiopathic arthritis
- Fabry disease
- Phenylketonuria
- Cystic fibrosis
- Rare renal disease
- Mitochondrial trifunctional protein deficiency
- Pediatric systemic lupus erythematosus
- Maple syrup urine disease
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
- Medium chain acyl-CoA dehydrogenase deficiency
- Hemophilia
- Niemann-Pick disease type C
- Ornithine transcarbamylase deficiency
- Adenylosuccinate lyase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Short chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Juvenile idiopathic arthritis
- Behçet disease
- Systemic sclerosis
- Carbamoyl-phosphate synthetase 1 deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Mucopolysaccharidosis type 1
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
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
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Phenylketonuria
- Mitochondrial disease
- 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
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Rare ataxia
- Neuroferritinopathy
- COASY protein-associated neurodegeneration
- Mitochondrial disease
- Neurodegeneration with brain iron accumulation
- Pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Beta-propeller protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Huntington disease
Supportgroups 1
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin