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Review 1. Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation.

Authors: A H van Gennip; S Busch; L Elzinga; A E Stroomer; A van Cruchten; E G Scholten; N G Abeling
Journal: Clin Chem Date: 1993-03 Impact factor: 8.327

2. Clinical and biochemical findings in six patients with pyrimidine degradation defects.

Authors: A H van Gennip; N G Abeling; A E Stroomer; H van Lenthe; H D Bakker
Journal: J Inherit Metab Dis Date: 1994 Impact factor: 4.982

3. New defects of pyrimidine metabolism.

Authors: S K Wadman; F A Beemer; P K de Bree; M Duran; A H van Gennip; D Ketting; F J van Sprang
Journal: Adv Exp Med Biol Date: 1984 Impact factor: 2.622

4. Pyrimidine-degrading enzymes. Purification and properties of beta-ureidopropionase of Euglena gracilis.

Authors: C Wasternack; G Lippmann; H Reinbotte
Journal: Biochim Biophys Acta Date: 1979-10-11

4 in total

2 in total

Review 1. Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects.

Authors: A H van Gennip; N G Abeling; P Vreken; A B van Kuilenburg
Journal: J Inherit Metab Dis Date: 1997-06 Impact factor: 4.982

2. Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China.

Authors: Jianbo Shu; Xiqian Lv; Shuzhen Jiang; Yuqin Zhang; Chunhua Zhang; Yingtao Meng; Aiming Situ; Haiquan Xu; Li Song
Journal: Childs Nerv Syst Date: 2014-09-19 Impact factor: 1.475

2 in total