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