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