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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1972 1
1974 1
1975 4
1976 1
1977 1
1978 3
1979 2
1980 2
1981 4
1982 1
1983 3
1984 2
1986 1
1987 4
1988 4
1989 3
1990 5
1991 4
1993 7
1994 3
1995 3
1996 4
1997 4
1998 1
1999 2
2000 2
2002 4
2003 3
2004 2
2005 3
2006 3
2007 3
2008 2
2009 4
2010 4
2011 7
2012 6
2013 6
2014 4
2015 6
2016 4
2017 5
2018 5
2019 5
2020 10
2021 9
2022 6
2023 7
2024 1

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Article type

Publication date

PubMed for id: 78642

166 results

Results by year

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Page 1
Hereditary orotic aciduria identified by newborn screening.
Staretz-Chacham O, Damseh NS, Daas S, Abu Salah N, Anikster Y, Barel O, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Hershkovitz E, Josefsberg S, Landau Y, Lerman-Sagie T, Mandel H, Rock R, Rostami N, Saraf-Levy T, Shaul Lotan N, Spiegel R, Tal G, Ulanovsky I, Wilnai Y, Korman SH, Almashanu S. Staretz-Chacham O, et al. Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023. Front Genet. 2023. PMID: 36999056 Free PMC article.
Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.
Khoja S, Nitzahn M, Hermann K, Truong B, Borzone R, Willis B, Rudd M, Palmer DJ, Ng P, Brunetti-Pierri N, Lipshutz GS. Khoja S, et al. Mol Genet Metab. 2018 Aug;124(4):243-253. doi: 10.1016/j.ymgme.2018.04.001. Epub 2018 Apr 12. Mol Genet Metab. 2018. PMID: 29801986 Free PMC article.
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE; additional individual contributors. Wortmann SB, et al. J Inherit Metab Dis. 2017 May;40(3):423-431. doi: 10.1007/s10545-017-0015-9. Epub 2017 Feb 15. J Inherit Metab Dis. 2017. PMID: 28205048 Free PMC article.
166 results