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