Dihydropyrimidinase deficiency: confirma... [J Inherit Metab Dis. 1997] - PubMed

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Review [Dihydropyrimidinase deficiency (dihydropyrimidinuria)]. [Ryoikibetsu Shokogun Shirizu. ...]
Review [Dihydropyrimidinase deficiency (dihydropyrimidinuria)].
Hamajima N, Wada Y. Ryoikibetsu Shokogun Shirizu. 1998; (18 Pt 1):231-4.
Dihydropyrimidinuria without clinical symptoms. [J Inherit Metab Dis. 1996]
Dihydropyrimidinuria without clinical symptoms.
Sumi S, Kidouchi K, Hayashi K, Ohba S, Wada Y. J Inherit Metab Dis. 1996; 19(5):701-2.
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level. [J Inherit Metab Dis. 2001]
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level.
Van Kuilenburg AB, Van Lenthe H, Assmann B, Göhlich-Ratmann G, Hoffmann GF, Bräutigam C, Wevers RA, Van Gennip AH. J Inherit Metab Dis. 2001 Dec; 24(7):725-32.
Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay. [J Inherit Metab Dis. 1993]
Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay.
Henderson MJ, Ward K, Simmonds HA, Duley JA, Davies PM. J Inherit Metab Dis. 1993; 16(3):574-6.
Review Biotinidase deficiency: a novel vitamin recycling defect. [J Inherit Metab Dis. 1985]
Review Biotinidase deficiency: a novel vitamin recycling defect.
Wolf B, Grier RE, Secor McVoy JR, Heard GS. J Inherit Metab Dis. 1985; 8 Suppl 1:53-8.

Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings. [JIMD Rep. 2012]
Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings.
Chang HS, Shibata T, Arai S, Zhang C, Yabuki A, Mitani S, Higo T, Sunagawa K, Mizukami K, Yamato O. JIMD Rep. 2012; 6:21-6. Epub 2012 Mar 29.

Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyri...
Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria.
J Inherit Metab Dis. 1997 Jul ;20(3):339-42.

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