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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- Argininosuccinic aciduria
- Niemann-Pick disease type C
- Ornithine transcarbamylase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Adenylosuccinate lyase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Hemophilia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Mucopolysaccharidosis type 1
- Phenylketonuria
- Carbamoyl-phosphate synthetase 1 deficiency
- Systemic sclerosis
- Juvenile idiopathic arthritis
- Behçet disease
- Short 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
Universitätsklinikum Leipzig Universitäres Zentrum für Seltene Erkrankungen Leipzig (UZSEL)
Liebigstraße 20a
04103 Leipzig
0341 9726242
0341 9726229
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0341 9726242
0341 9726229
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- Isovaleric acidemia
- Biotinidase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Ornithine transcarbamylase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Propionic acidemia
- Argininosuccinic aciduria
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Congenital glucokinase-related hyperinsulinism
- Galactosemia
- Phenylketonuria
- Maple syrup urine disease
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
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
- Glycogen storage disease
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Tyrosinemia type 1
- Galactosemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Disorder of carnitine cycle and carnitine transport
- Glutaryl-CoA dehydrogenase deficiency
- Fabry disease
- Mitochondrial disease
- 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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- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal recessive polycystic kidney disease
- Cystic fibrosis
- Disorder of carbohydrate metabolism
- Autosomal dominant polycystic kidney disease
- Disorder of lipid metabolism
- Nephronophthisis
- Disorder of amino acid and other organic acid metabolism
- Respiratory malformation
Zentrum für metabolische Erkrankungen (ZME)-Tübingen
Paul-Ehrlich-Strasse 23
72076 Tübingen
070717049000
070717049002
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