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

Year Number of Results
1976 1
1977 2
1981 1
1984 2
1988 1
1990 1
1991 1
1993 1
1996 1
1999 1
2000 1
2001 3
2002 2
2003 2
2004 4
2005 3
2006 2
2007 5
2008 4
2009 3
2010 5
2011 4
2012 4
2013 6
2014 5
2015 4
2016 2
2017 5
2018 3
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2020 10
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2022 3
2023 7
2024 4

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102 results

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Page 1
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.
Citrin deficiency is a pan-ethnic and highly prevalent mitochondrial disease with three different stages: neonatal intrahepatic cholestasis (NICCD), a relatively mild adaptation stage, and type II citrullinemia in adulthood (CTLN2). The cause is the absence or dysfunction …
Citrin deficiency is a pan-ethnic and highly prevalent mitochondrial disease with three different stages: neonatal intrahepatic cholestasis …
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Zielonka M, et al. Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30. Ann Clin Transl Neurol. 2019. PMID: 31469252 Free PMC article.
OBJECTIVE: Citrullinemia type 1 (CTLN1) is an inherited metabolic disease affecting the brain which is detectable by newborn screening. The clinical spectrum is highly variable including individuals with lethal hyperammonemic encephalopathy in the newborn period and indivi …
OBJECTIVE: Citrullinemia type 1 (CTLN1) is an inherited metabolic disease affecting the brain which is detectable by newborn screenin …
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
Posset R, Kölker S, Gleich F, Okun JG, Gropman AL, Nagamani SCS, Scharre S, Probst J, Walter ME, Hoffmann GF, Garbade SF, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group. Posset R, et al. Mol Genet Metab. 2020 Dec;131(4):390-397. doi: 10.1016/j.ymgme.2020.10.013. Epub 2020 Nov 7. Mol Genet Metab. 2020. PMID: 33288448 Free PMC article.
METHODS: In 115 individuals with CTLN1 and ASA, we compared the severity of the initial hyperammonemic episode (HAE) and the frequency of (subsequent) HAEs with the mode of diagnosis. Based on a recently established functional disease prediction model, individuals were str …
METHODS: In 115 individuals with CTLN1 and ASA, we compared the severity of the initial hyperammonemic episode (HAE) and the frequency of (s …
Citrulline and the gut.
Curis E, Crenn P, Cynober L. Curis E, et al. Curr Opin Clin Nutr Metab Care. 2007 Sep;10(5):620-6. doi: 10.1097/MCO.0b013e32829fb38d. Curr Opin Clin Nutr Metab Care. 2007. PMID: 17693747 Review.
This review discusses these two aspects of citrulline, as well as the recent developments in the understanding of its metabolism. RECENT FINDINGS: Citrullinemia is such an efficient marker when the active mass of the bowel is affected that it can be used as a prognostic ma …
This review discusses these two aspects of citrulline, as well as the recent developments in the understanding of its metabolism. RECENT FIN …
Gut Alterations in Septic Patients: A Biochemical Literature Review.
Longhitano Y, Zanza C, Thangathurai D, Taurone S, Kozel D, Racca F, Audo A, Ravera E, Migneco A, Piccioni A, Franceschi F. Longhitano Y, et al. Rev Recent Clin Trials. 2020;15(4):289-297. doi: 10.2174/1574887115666200811105251. Rev Recent Clin Trials. 2020. PMID: 32781963 Review.
BACKGROUND: Sepsis is a life-threatening organ dysfunction with high mortality and morbidity rate and with the disease progression many alterations are observed in different organs. The gastrointestinal tract is often damaged during sepsis and septic shock and main symptom …
BACKGROUND: Sepsis is a life-threatening organ dysfunction with high mortality and morbidity rate and with the disease progression many alte …
Citrulline as a biomarker of intestinal failure due to enterocyte mass reduction.
Crenn P, Messing B, Cynober L. Crenn P, et al. Clin Nutr. 2008 Jun;27(3):328-39. doi: 10.1016/j.clnu.2008.02.005. Epub 2008 Apr 28. Clin Nutr. 2008. PMID: 18440672 Review.
A close correlation between small bowel remnant length and citrullinemia was found. In addition, diagnosis of intestinal failure was assessed through plasma citrulline levels in severe small bowel diseases in which there is a marked enterocyte mass reduction. ...
A close correlation between small bowel remnant length and citrullinemia was found. In addition, diagnosis of intestinal failure was …
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S, Häberle J, Jalan AB, Puri RD, Kohli S, Kudalkar K, Rüfenacht V, Gupta D, Maurya D, Verma J, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Orphanet J Rare Dis. 2018 Oct 1;13(1):174. doi: 10.1186/s13023-018-0908-1. Orphanet J Rare Dis. 2018. PMID: 30285816 Free PMC article.
The majority of them (72/123, 58%) presented in the neonatal period (before 30 days of age) with 88% on or before day 7 of life (classical presentation), and had a high mortality (64/72, 88%). Citrullinemia type 1 was the most common UCD, observed in 61/123 patients …
The majority of them (72/123, 58%) presented in the neonatal period (before 30 days of age) with 88% on or before day 7 of life (classical p …
Features of liver injury in 138 Chinese patients with NICCD.
Jiang M, Peng M, Lu Z, Shao Y, Liu Z, Li X, Lin Y, Liu L, Zhang W, Cai Y. Jiang M, et al. J Pediatr Endocrinol Metab. 2023 Nov 10;36(12):1154-1160. doi: 10.1515/jpem-2023-0026. Print 2023 Dec 15. J Pediatr Endocrinol Metab. 2023. PMID: 37939726
CONCLUSIONS: High level of citrulline, tyrosine, TBIL, ALP, gamma-GT, and ammonia, low level of albumin, and low Fisher ratio were predictors to suggest severe liver damage in NICCD patients who may go on to develop fatal metabolic disorder. ...
CONCLUSIONS: High level of citrulline, tyrosine, TBIL, ALP, gamma-GT, and ammonia, low level of albumin, and low Fisher ratio were predic …
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Waisbren SE, Cuthbertson D, Burgard P, Holbert A, McCarter R, Cederbaum S; Members of the Urea Cycle Disorders Consortium. Waisbren SE, et al. J Inherit Metab Dis. 2018 Jul;41(4):657-667. doi: 10.1007/s10545-017-0132-5. Epub 2018 Feb 8. J Inherit Metab Dis. 2018. PMID: 29423830 Free PMC article.
This report examines links between biochemical markers (ammonia, glutamine, arginine, citrulline) and primary neuropsychological endpoints in three distal disorders, argininosuccinic acid synthetase deficiency (ASD or citrullinemia type I), argininosuccinic acid lyase defi …
This report examines links between biochemical markers (ammonia, glutamine, arginine, citrulline) and primary neuropsychological endpoints i …
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 Free article.
However, neurocognitive outcome in individuals with LTx did not differ from the medically managed counterparts as reflected by the frequency of motor abnormality and cognitive standard deviation score at last observation. CONCLUSION: Whereas LTx enabled metabolic st …
However, neurocognitive outcome in individuals with LTx did not differ from the medically managed counterparts as reflected by the frequency …
102 results