Carbamoyl-phosphate synthetase 1 deficiency
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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
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- Phenylketonuria
- Carbamoyl-phosphate synthetase 1 deficiency
- Mucopolysaccharidosis type 1
- Short chain acyl-CoA dehydrogenase deficiency
- Systemic sclerosis
- Ornithine transcarbamylase deficiency
- Juvenile idiopathic arthritis
- Argininosuccinic aciduria
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Hemophilia
- Behçet disease
- Niemann-Pick disease type C
- Adenylosuccinate lyase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Medizinische Hochschule Hannover Zentrum für Seltene Erkrankungen Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Interdisziplinäres pädiatrisches Stoffwechselzentrum am Universitätsklinikum Leipzig
Universitäres Zentrum für Seltene Erkrankungen Leipzig (UZSEL) Universitätsklinikum Leipzig
Liebigstraße 20a
04103 Leipzig
0341 9726242
0341 9726229
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0341 9726242
0341 9726229
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- Maple syrup urine disease
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Isovaleric acidemia
- Biotinidase deficiency
- Ornithine transcarbamylase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Propionic acidemia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Argininosuccinic aciduria
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Galactosemia
- Congenital glucokinase-related hyperinsulinism
- Carbamoyl-phosphate synthetase 1 deficiency
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
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Glutaryl-CoA dehydrogenase deficiency
- Galactosemia
- Fabry disease
- Mitochondrial disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Tyrosinemia type 1
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie am Universitätsklinikum Münster
Centrum für seltene Erkrankungen Münster Universitätsklinikum Münster (UKM)
Albert-Schweitzer-Campus 1
48149 Münster
0251 8347732
0251 8347735
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- Nephronophthisis
- Disorder of amino acid and other organic acid metabolism
- Respiratory malformation
- Cystic fibrosis
- Primary ciliary dyskinesia
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Disorder of lipid metabolism
Zentrum für metabolische Erkrankungen (ZME)-Tübingen
Paul-Ehrlich-Strasse 23
72076 Tübingen
070717049000
070717049002
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Email