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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1996 | 1 |
1997 | 1 |
2014 | 1 |
2015 | 1 |
2017 | 1 |
2018 | 1 |
2024 | 0 |
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Page 1
Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
J Inherit Metab Dis. 1996;19(1):31-42. doi: 10.1007/BF01799346.
J Inherit Metab Dis. 1996.
PMID: 8830175
The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.
Matsuda I, Tanase S.
Matsuda I, et al.
Am J Med Genet. 1997 Sep 5;71(4):378-83.
Am J Med Genet. 1997.
PMID: 9286441
Review.
Item in Clipboard
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Martín-Hernández E, Aldámiz-Echevarría L, Castejón-Ponce E, Pedrón-Giner C, Couce ML, Serrano-Nieto J, Pintos-Morell G, Bélanger-Quintana A, Martínez-Pardo M, García-Silva MT, Quijada-Fraile P, Vitoria-Miñana I, Dalmau J, Lama-More RA, Bueno-Delgado MA, Del Toro-Riera M, García-Jiménez I, Sierra-Córcoles C, Ruiz-Pons M, Peña-Quintana LJ, Vives-Piñera I, Moráis A, Balmaseda-Serrano E, Meavilla S, Sanjurjo-Crespo P, Pérez-Cerdá C.
Martín-Hernández E, et al.
Orphanet J Rare Dis. 2014 Nov 30;9:187. doi: 10.1186/s13023-014-0187-4.
Orphanet J Rare Dis. 2014.
PMID: 25433810
Free PMC article.
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Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
Choi JH, Lee BH, Kim JH, Kim GH, Kim YM, Cho J, Cheon CK, Ko JM, Lee JH, Yoo HW.
Choi JH, et al.
J Hum Genet. 2015 Sep;60(9):501-7. doi: 10.1038/jhg.2015.54.
J Hum Genet. 2015.
PMID: 25994866
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Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.
Rajabi F, Rodan LH, Jonas MM, Soul JS, Ullrich NJ, Wessel A, Waisbren SE, Tan WH, Berry GT.
Rajabi F, et al.
JIMD Rep. 2018;40:17-22. doi: 10.1007/8904_2017_55. Epub 2017 Sep 9.
JIMD Rep. 2018.
PMID: 28887792
Free PMC article.
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