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