Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2002 2
2003 1
2004 2
2007 1
2008 1
2010 1
2011 1
2012 2
2013 1
2014 1
2016 2
2017 1
2019 4
2020 3
2021 2
2022 3
2023 4
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

30 results

Results by year

Filters applied: . Clear all
Page 1
Metabolic basis and treatment of citrin deficiency.
Hayasaka K. Hayasaka K. J Inherit Metab Dis. 2021 Jan;44(1):110-117. doi: 10.1002/jimd.12294. Epub 2020 Aug 26. J Inherit Metab Dis. 2021. PMID: 32740958 Review.
Growth impairment in these periods is characteristic of citrin deficiency. Hepatocytes with citrin deficiency cannot use glucose and fatty acids as energy sources due to defects in the NADH shuttle and downregulation of peroxisome proliferator-activate …
Growth impairment in these periods is characteristic of citrin deficiency. Hepatocytes with citrin deficiency ca …
Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.
Okano Y, Ohura T, Sakamoto O, Inui A. Okano Y, et al. Mol Genet Metab. 2019 Jul;127(3):175-183. doi: 10.1016/j.ymgme.2019.06.004. Epub 2019 Jun 15. Mol Genet Metab. 2019. PMID: 31255436 Free article. Review.
Citrin deficiency is characterized by 1) neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD); 2) adaptation/compensation stage with unique food preference from childhood to adulthood; and 3) CTLN2. ...Some poorly-controlled patients s …
Citrin deficiency is characterized by 1) neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD); …
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test.
Chen HA, Hsu RH, Chen YH, Hsu LW, Chiang SC, Lee NC, Hwu WL, Chiu PC, Chien YH. Chen HA, et al. Mol Genet Metab. 2022 Aug;136(4):330-336. doi: 10.1016/j.ymgme.2022.06.007. Epub 2022 Jun 29. Mol Genet Metab. 2022. PMID: 35798653
BACKGROUND: Citrin deficiency is an autosomal recessive disorder caused by variants of the SLC25A13 gene. ...However, at the time of second blood sampling, the normal citrulline level of five subjects did not exclude a citrin deficiency diagnosis. CONC …
BACKGROUND: Citrin deficiency is an autosomal recessive disorder caused by variants of the SLC25A13 gene. ...However, at the t …
Treatment and management for children with urea cycle disorder in chronic stage.
Huang X. Huang X. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Oct 3;52(6):744-750. doi: 10.3724/zdxbyxb-2023-0378. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 37807629 Free PMC article. Chinese, English.
Liver transplantation is recommended for pediatric patients not responding to standard diet and drug treatment, and those with severe progressive liver disease and/or recurrent metabolic decompensations. Gene therapy, stem cell therapy, enzyme therapy and oth …
Liver transplantation is recommended for pediatric patients not responding to standard diet and drug treatment, and those with severe progre …
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Bölsterli BK, Boltshauser E, Palmieri L, Spenger J, Brunner-Krainz M, Distelmaier F, Freisinger P, Geis T, Gropman AL, Häberle J, Hentschel J, Jeandidier B, Karall D, Keren B, Klabunde-Cherwon A, Konstantopoulou V, Kottke R, Lasorsa FM, Makowski C, Mignot C, O'Gorman Tuura R, Porcelli V, Santer R, Sen K, Steinbrücker K, Syrbe S, Wagner M, Ziegler A, Zöggeler T, Mayr JA, Prokisch H, Wortmann SB. Bölsterli BK, et al. Nutrients. 2022 Aug 31;14(17):3605. doi: 10.3390/nu14173605. Nutrients. 2022. PMID: 36079864 Free PMC article.
Human disease has been associated with defects in four MAS-proteins (encoded by MDH1, MDH2, GOT2, SLC25A12) sharing a neurological/epileptic phenotype, as well as citrin deficiency (SLC25A13) with a complex hepatopathic-neuropsychiatric phenotype. ...The same holds …
Human disease has been associated with defects in four MAS-proteins (encoded by MDH1, MDH2, GOT2, SLC25A12) sharing a neurological/epileptic …
Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK.
Pinto A, Ashmore C, Batzios S, Daly A, Dawson C, Dixon M, Evans S, Green D, Gribben J, Hunjan I, Jameson E, Newby C, Pierre G, Rajwal S, Robertson L, Santra S, Sharrard M, Vara R, White L, Wilcox G, Yilmaz O, MacDonald A. Pinto A, et al. Nutrients. 2020 Oct 29;12(11):3313. doi: 10.3390/nu12113313. Nutrients. 2020. PMID: 33137944 Free PMC article.
BACKGROUND: Little is known about the optimal dietary treatment for citrin deficiency. Our aim is to describe the management of UK citrin deficiency patients. ...More research is necessary to assess the effectiveness of dietary approaches in improving …
BACKGROUND: Little is known about the optimal dietary treatment for citrin deficiency. Our aim is to describe the management o …
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
Lin Y, Liu Y, Zhu L, Le K, Shen Y, Yang C, Chen X, Hu H, Ma Q, Shi X, Hu Z, Yang J, Shen Y, Lin CH, Huang C, Huang X. Lin Y, et al. J Inherit Metab Dis. 2020 May;43(3):467-477. doi: 10.1002/jimd.12206. Epub 2019 Dec 29. J Inherit Metab Dis. 2020. PMID: 31845334
To evaluate the feasibility of incorporating genetic screening for neonatal intrahepatic cholestasis, caused by citrin deficiency (NICCD), into the current newborn screening (NBS) program. ...
To evaluate the feasibility of incorporating genetic screening for neonatal intrahepatic cholestasis, caused by citrin deficiency …
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Lin Y, Zheng Q, Zheng T, Zheng Z, Lin W, Fu Q. Lin Y, et al. Clin Chim Acta. 2019 Jul;494:106-111. doi: 10.1016/j.cca.2019.03.1622. Epub 2019 Mar 21. Clin Chim Acta. 2019. PMID: 30904546
Unlike other studies, our study indicated that fatty acid oxidation disorder has the highest proportion (37.7%), particularly primary carnitine deficiency (PCD) with incidence up to 1:10,126 was the most common disorder in the region. The recurrent mutations of relatively …
Unlike other studies, our study indicated that fatty acid oxidation disorder has the highest proportion (37.7%), particularly primary carnit …
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
Five types of IEMs were detected, including four patients with propionic acidemia (PA), three patients with methylmalonic acidemia (MMA), one of each with citrin deficiency, primary carnitine deficiency, and isobutyryl-CoA dehydrogenase deficiency. ...
Five types of IEMs were detected, including four patients with propionic acidemia (PA), three patients with methylmalonic acidemia (MMA), on …
The diagnostic challenge of mild citrulline elevation at newborn screening.
Siri B, Olivieri G, Angeloni A, Cairoli S, Carducci C, Cotugno G, Di Michele S, Giovanniello T, La Marca G, Lepri FR, Novelli A, Rossi C, Semeraro M, Dionisi-Vici C. Siri B, et al. Mol Genet Metab. 2022 Apr;135(4):327-332. doi: 10.1016/j.ymgme.2022.02.008. Epub 2022 Feb 20. Mol Genet Metab. 2022. PMID: 35279366
Citrulline is a target analyte measured at expanded newborn screening (NBS) and its elevation represents a biomarker for distal urea cycle disorders and citrin deficiency. Altered ratios of citrulline with other urea cycle-related amino acids are helpful for the dif …
Citrulline is a target analyte measured at expanded newborn screening (NBS) and its elevation represents a biomarker for distal urea cycle d …
30 results