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

Year Number of Results
2004 2
2005 2
2006 2
2007 2
2008 1
2010 2
2011 1
2012 3
2013 3
2014 5
2015 2
2017 1
2018 1
2019 3
2020 3
2021 4
2022 2
2023 4
2024 0

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40 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.
In this review, we describe the geological spread and occurrence of citrin deficiency, the metabolic consequences and use our current knowledge of the structure to predict the impact of the known pathogenic mutations on the calcium-regulatory and transport mechanism of cit …
In this review, we describe the geological spread and occurrence of citrin deficiency, the metabolic consequences and use our current knowle …
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
Kido J, Häberle J, Sugawara K, Tanaka T, Nagao M, Sawada T, Wada Y, Numakura C, Murayama K, Watanabe Y, Kojima-Ishii K, Sasai H, Kosugiyama K, Nakamura K. Kido J, et al. J Inherit Metab Dis. 2022 May;45(3):431-444. doi: 10.1002/jimd.12483. Epub 2022 Feb 25. J Inherit Metab Dis. 2022. PMID: 35142380
Liver transplantation has been performed in only 4 patients (1 NICCD, 3 CTLN2) with a good response thereafter. This study reports the diagnosis and clinical course in a large cohort of patients with citrin deficiency and suggests that early intervention including a low ca …
Liver transplantation has been performed in only 4 patients (1 NICCD, 3 CTLN2) with a good response thereafter. This study reports the diagn …
The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants.
Chen CY, Chang MH, Chen HL, Chien YH, Wu JF. Chen CY, et al. Pediatr Res. 2023 Sep;94(3):1151-1157. doi: 10.1038/s41390-023-02585-3. Epub 2023 Apr 7. Pediatr Res. 2023. PMID: 37029238
BACKGROUND: The prognosis for patients with citrin deficiency is not always benign. ...A timely diagnosis is needed, along with follow-up examinations that assess metabolic profile and body weight, to improve the long-term prognosis of NICCD patients....
BACKGROUND: The prognosis for patients with citrin deficiency is not always benign. ...A timely diagnosis is needed, along with follo …
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 …
Adult liver disorders caused by inborn errors of metabolism: review and update.
Chanprasert S, Scaglia F. Chanprasert S, et al. Mol Genet Metab. 2015 Jan;114(1):1-10. doi: 10.1016/j.ymgme.2014.10.011. Epub 2014 Nov 5. Mol Genet Metab. 2015. PMID: 25467056 Review.
It is important for internists to have the knowledge and be familiar with these conditions because it is predicted that more and more adult patients with IEMs will need continuity of care in the near future. ...
It is important for internists to have the knowledge and be familiar with these conditions because it is predicted that more and more …
Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency.
Tamamori A, Fujimoto A, Okano Y, Kobayashi K, Saheki T, Tagami Y, Takei H, Shigematsu Y, Hata I, Ozaki H, Tokuhara D, Nishimura Y, Yorifuji T, Igarashi N, Ohura T, Shimizu T, Inui K, Sakai N, Abukawa D, Miyakawa T, Matsumori M, Ban K, Kaneko H, Yamano T. Tamamori A, et al. Pediatr Res. 2004 Oct;56(4):608-14. doi: 10.1203/01.PDR.0000139713.64264.BC. Epub 2004 Aug 4. Pediatr Res. 2004. PMID: 15295082
NMS for citrin deficiency (frequency of homozygote with SLC25A13 mutation: 1/10,000-1/38,000 in East Asia) will be useful for clarification of the clinical course, treatment, and prevention of this disease....
NMS for citrin deficiency (frequency of homozygote with SLC25A13 mutation: 1/10,000-1/38,000 in East Asia) will be useful for clarification …
Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications.
Abuduxikuer K, Chen R, Wang ZL, Wang JS. Abuduxikuer K, et al. BMC Pediatr. 2019 Jan 14;19(1):18. doi: 10.1186/s12887-018-1383-5. BMC Pediatr. 2019. PMID: 30642297 Free PMC article.
CONCLUSION: Late referral, presence of infection, delayed treatment with LF/MCT formula, lower platelet count, lower levels of GGT, total cholesterol, blood citrulline, and higher level of blood ammonia and tyrosine, were associated with poor prognosis in NICCD....
CONCLUSION: Late referral, presence of infection, delayed treatment with LF/MCT formula, lower platelet count, lower levels of GGT, total ch …
Newborn screening for inborn errors of metabolism in a northern Chinese population.
Liu G, Liu X, Lin Y. Liu G, et al. J Pediatr Endocrinol Metab. 2023 Jan 20;36(3):278-282. doi: 10.1515/jpem-2022-0543. Print 2023 Mar 28. J Pediatr Endocrinol Metab. 2023. PMID: 36662638
Two novel PCCB variants (c.505G>A and c.1123_1124insG) were identified in patients with PA. In silico analyses predicted that these two variants were potentially pathogenic. CONCLUSIONS: This study preliminarily clarified the incidence, disease spectrum, and genetic pro …
Two novel PCCB variants (c.505G>A and c.1123_1124insG) were identified in patients with PA. In silico analyses predicted that thes …
40 results