| 1 | CPS1, CPS1D
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| Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.
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| Ali EZ, Khalid MK, Yunus ZM, Yakob Y, Chin CB, Latif KA, Hock NL.
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| Eur J Pediatr ur J Pediatr. 2015 Oct 6. [Epub ahead of print]
2015
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| 2 | CPS1, CPS1D
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| The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.
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| Díez-Fernández C, Gallego J, Häberle J, Cervera J, Rubio V.
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| J Genet Genomics 42(5):249-60. doi: 10.1016/j.jgg.2015.03.009. Epub 2015 Apr 1.
2015
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| 3 | CPS1, CPS1D
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| Molecular characterization of CPS1 deletions by array CGH.
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| Wang J, Shchelochkov OA, Zhan H, Li F, Chen LC, Brundage EK, Pursley AN, Schmitt ES, Häberle J, Wong LJ.
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| Mol Genet Metab 102(1):103-6. Epub 2010 Sep 19.
2011
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| 4 | CPS1, CPS1D
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| Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.
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| Martínez AI, Pérez-Arellano I, Pekkala S, Barcelona B, Cervera J.
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| Mol Genet Metab 101(4):311-23. Epub 2010 Aug 6. Review.
2010
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| 5 | CPS1, CPS1D
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| Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
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| Klaus V, Vermeulen T, Minassian B, Israelian N, Engel K, Lund AM, Roebrock K, Christensen E, Häberle J.
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| Clin Genet 76(3):263-9.
2009
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| 6 | CPS1, CPS1D
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| Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
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| Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T.
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| J Hum Genet 52(4):349-54. Epub 2007 Feb 20. 2007
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| 7 | CPS1, CPS1D
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| Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.
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| Haberle J, Schmidt E, Pauli S, Rapp B, Christensen E, Wermuth B, Koch HG.
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| Hum Mutat 21(4):444. 2003
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| 8 | CPS1D, CPS1
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| Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
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| Aoshima T, Kajita M, Sekido Y, Kikuchi S, Yasuda I, Saheki T, Watanabe K, Shimokata K, Niwa T.
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| Hum Hered 52(2):99-101. No abstract available. 2001
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| 9 | CPS1, CPS1D
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| Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
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| Finckh U, et al.
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| Hum Mutat 12 : 206-211. 1998
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| 10 | CPS1, CPS1D
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| Molecular genetic research into carbamoyl-phosphate synthase I : molecular defects and linkage markers.
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| Summar ML.
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| J Inherit Metab Dis 21 : 30-39. 1998
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| 11 | CPS1, CPS1D
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| Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS1 gene causes a 9-basepair deletion due to aberrant splicing.
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| Hoshide R, et al.
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| J Clin Invest 91 : 1884-1887. 1993
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