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1963
2025

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

Year Number of Results
1963 1
1971 2
1976 3
1977 1
1978 1
1979 1
1981 1
1982 2
1983 2
1985 1
1986 1
1987 3
1988 1
1989 3
1990 3
1991 4
1992 5
1993 4
1994 2
1995 7
1996 4
1997 3
1998 8
1999 5
2000 7
2001 15
2002 14
2003 3
2004 12
2005 11
2006 7
2007 11
2008 4
2009 4
2010 16
2011 10
2012 15
2013 14
2014 15
2015 15
2016 8
2017 11
2018 9
2019 18
2020 12
2021 6
2022 16
2023 15
2024 16
2025 1

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325 results

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Page 1
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C. Häberle J, et al. J Inherit Metab Dis. 2019 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15. J Inherit Metab Dis. 2019. PMID: 30982989 Review.
In 2012, we published guidelines summarizing and evaluating late 2011 evidence for diagnosis and therapy of urea cycle disorders (UCDs). With 1:35 000 estimated incidence, UCDs cause hyperammonemia of neonatal (~50%) or late onset that can lead to intellectua …
In 2012, we published guidelines summarizing and evaluating late 2011 evidence for diagnosis and therapy of urea cycle diso
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM. Pearson TS, et al. Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Mov Disord. 2019. PMID: 30913345 Review.
The term "cerebral palsy mimic" is used to describe a number of neurogenetic disorders that may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral palsy. ...Making a precise diagnosis of a genetic disorder has important implicati …
The term "cerebral palsy mimic" is used to describe a number of neurogenetic disorders that may present with motor symptoms in early …
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.
Summar ML, Mew NA. Summar ML, et al. Pediatr Clin North Am. 2018 Apr;65(2):231-246. doi: 10.1016/j.pcl.2017.11.004. Epub 2018 Feb 2. Pediatr Clin North Am. 2018. PMID: 29502911 Review.
The urea cycle disorders are a group of inherited biochemical diseases caused by a complete or partial deficiency of any one of the enzymes or transport proteins required to convert toxic ammonia into urea and to produce arginine and citrulline. The cl …
The urea cycle disorders are a group of inherited biochemical diseases caused by a complete or partial deficiency of an …
Suggested guidelines for the diagnosis and management of urea cycle disorders.
Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Crespo PS, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, Dionisi-Vici C. Häberle J, et al. Orphanet J Rare Dis. 2012 May 29;7:32. doi: 10.1186/1750-1172-7-32. Orphanet J Rare Dis. 2012. PMID: 22642880 Free PMC article. Review.
Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline a
Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affect
Citrin Deficiency: Clinical and Nutritional Features.
Komatsu M, Tanaka N, Kimura T, Yazaki M. Komatsu M, et al. Nutrients. 2023 May 12;15(10):2284. doi: 10.3390/nu15102284. Nutrients. 2023. PMID: 37242166 Free PMC article. Review.
Clinical practice: the management of hyperammonemia.
Häberle J. Häberle J. Eur J Pediatr. 2011 Jan;170(1):21-34. doi: 10.1007/s00431-010-1369-2. Epub 2010 Dec 17. Eur J Pediatr. 2011. PMID: 21165747 Free article. Review.
Elevations of ammonia in plasma indicate its increased production and/or decreased detoxification. The hepatic urea cycle is the main pathway to detoxify ammonia; it can be defective due to an inherited enzyme deficiency or secondary to accumulated toxic metabolites …
Elevations of ammonia in plasma indicate its increased production and/or decreased detoxification. The hepatic urea cycle is t …
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S, Lacabanne D, Thangaratnarajah C, Kunji ERS. Tavoulari S, et al. Trends Endocrinol Metab. 2022 Aug;33(8):539-553. doi: 10.1016/j.tem.2022.05.002. Epub 2022 Jun 17. Trends Endocrinol Metab. 2022. PMID: 35725541 Free PMC article. Review.
In citrin deficiency, these missing transport steps lead to impairment of the malate-aspartate shuttle, gluconeogenesis, amino acid homeostasis, and the urea cycle. In this review, we describe the geological spread and occurrence of citrin deficiency, the metabolic …
In citrin deficiency, these missing transport steps lead to impairment of the malate-aspartate shuttle, gluconeogenesis, amino acid homeosta …
[CITRULLINURIA].
FREYCON F, FREYCON MT. FREYCON F, et al. Pediatrie. 1963;18:847-9. Pediatrie. 1963. PMID: 14106631 Review. French. No abstract available.
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H. Caldovic L, et al. J Genet Genomics. 2015 May 20;42(5):181-94. doi: 10.1016/j.jgg.2015.04.003. Epub 2015 May 19. J Genet Genomics. 2015. PMID: 26059767 Free PMC article. Review.
Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle. OTC is one of the enzymes common to both the urea cycle and the bacterial arginine biosynthesis pathway; …
Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the u
325 results