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
2004 1
2006 1
2012 1
2013 1
2016 1
2017 2
2018 1
2019 1
2020 3
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Results by year

Filters applied: . Clear all
Page 1
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H. Wasim M, et al. Biochem Genet. 2018 Apr;56(1-2):7-21. doi: 10.1007/s10528-017-9825-6. Epub 2017 Nov 1. Biochem Genet. 2018. PMID: 29094226 Review.
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria/Methylene Tetrahydrofolate Reductase (MTHFR) deficiency, Tyrosinemia type II, Citrullinemia type …
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), …
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.
Citrin deficiency is a hereditary disorder caused by SLC25A13 mutations and manifests as neonatal intrahepatic cholestasis (NICCD), failure to thrive and dyslipidemia (FTTDCD), and adult-onset type II citrullinemia (CTLN2). Citrin is a component of the malate …
Citrin deficiency is a hereditary disorder caused by SLC25A13 mutations and manifests as neonatal intrahepatic cholestasis (NICCD), failure …
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.
Median age at diagnosis was 4 y (5 days-35 y) with 12 patients diagnosed in the neonatal period with neonatal intrahepatic cholestasis (NICCD), eight later in childhood (FTTDCD) and 12 by family screening based on index cases from five families. No patient had adult-onset type …
Median age at diagnosis was 4 y (5 days-35 y) with 12 patients diagnosed in the neonatal period with neonatal intrahepatic cholestasis (NICC …
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.
Identification of the genes responsible for adult-onset type II citrullinemia (CTLN2) and citrin protein function have enhanced our understanding of citrin deficiency. ...At present, there is no report of a case with patients reported having the onset of CTLN …
Identification of the genes responsible for adult-onset type II citrullinemia (CTLN2) and citrin protein function have …
Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: our experience and a review of the literature.
Kimura N, Kubo N, Narumi S, Toyoki Y, Ishido K, Kudo D, Umehara M, Yakoshi Y, Hakamada K. Kimura N, et al. Transplant Proc. 2013 Nov;45(9):3432-7. doi: 10.1016/j.transproceed.2013.06.016. Transplant Proc. 2013. PMID: 24182831 Review.
Adult-onset type II citrullinemia (CTLN2), an autosomal recessive disorder caused by a mutation in the SLC25A13 gene, is characterized by increased serum citrulline and ammonia levels. ...However, recent studies have suggested that arginine and sodium pyruvat …
Adult-onset type II citrullinemia (CTLN2), an autosomal recessive disorder caused by a mutation in the SLC25A13 gene, i …
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.
Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, Kobayashi K, Ohura T, Kure S. Kikuchi A, et al. Mol Genet Metab. 2012 Apr;105(4):553-8. doi: 10.1016/j.ymgme.2011.12.024. Epub 2012 Jan 8. Mol Genet Metab. 2012. PMID: 22277121
Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has two disease outcomes: adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency. ...
Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has two disease outcomes: adult-onset t …
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.
Shigematsu Y, Hirano S, Hata I, Tanaka Y, Sudo M, Sakura N, Tajima T, Yamaguchi S. Shigematsu Y, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Aug 25;776(1):39-48. doi: 10.1016/s1570-0232(02)00077-6. J Chromatogr B Analyt Technol Biomed Life Sci. 2002. PMID: 12127323
In our mass screening of 102,200 newborns, five patients with propionic acidemia, two with methylmalonic acidemia, two with medium-chain acyl-CoA dehydrogenase deficiency, three with citrullinemia type II, and one with phenylketonuria were identified. ...
In our mass screening of 102,200 newborns, five patients with propionic acidemia, two with methylmalonic acidemia, two with medium-chain acy …
Tandem mass neonatal screening in Taiwan--report from one center.
Huang HP, Chu KL, Chien YH, Wei ML, Wu ST, Wang SF, Hwu WL. Huang HP, et al. J Formos Med Assoc. 2006 Nov;105(11):882-6. doi: 10.1016/S0929-6646(09)60173-X. J Formos Med Assoc. 2006. PMID: 17098689 Free article.
The most common inborn error found was 3-methylcrotonyl CoA carboxylase deficiency (10 cases, 34.5%), but none of the cases needed aggressive treatment. There were two cases of type I glutaric aciduria, two cases of maple syrup urine disease, and one case of type …
The most common inborn error found was 3-methylcrotonyl CoA carboxylase deficiency (10 cases, 34.5%), but none of the cases needed aggressiv …
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.
Yamaguchi N, Kobayashi K, Yasuda T, Nishi I, Iijima M, Nakagawa M, Osame M, Kondo I, Saheki T. Yamaguchi N, et al. Hum Mutat. 2002 Feb;19(2):122-30. doi: 10.1002/humu.10022. Hum Mutat. 2002. PMID: 11793471
We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adult-onset type II citrullinemia (CTLN2) and found seven mutations in the SLC25A13 gene of CTLN2 patients. Most recently, the SLC25A13 mutations have been detected in neona …
We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adult-onset type II citrullinemia …
Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment.
Nagasaka H, Komatsu H, Inui A, Nakacho M, Morioka I, Tsukahara H, Kaji S, Hirayama S, Miida T, Kondou H, Ihara K, Yagi M, Kizaki Z, Bessho K, Kodama T, Iijima K, Saheki T, Yorifuji T, Honda A. Nagasaka H, et al. Mol Genet Metab. 2017 Mar;120(3):207-212. doi: 10.1016/j.ymgme.2016.12.011. Epub 2016 Dec 24. Mol Genet Metab. 2017. PMID: 28041819
Citrin deficiency causes adult-onset type II citrullinemia (CTLN-2), which later manifests as severe liver steatosis and life-threatening encephalopathy. ...The plasma level of 3-OH-butyrate derived from fatty acid beta-oxidation was significantly higher in t …
Citrin deficiency causes adult-onset type II citrullinemia (CTLN-2), which later manifests as severe liver steatosis an …
12 results