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
1963 1
1982 1
1986 2
1989 1
1991 1
1993 1
1995 1
1998 1
1999 1
2000 3
2001 4
2002 4
2003 2
2004 3
2005 1
2006 1
2007 3
2008 1
2009 3
2011 1
2012 1
2013 2
2014 1
2015 1
2017 2
2018 1
2019 2
2020 5
2021 1
2022 2
2023 4
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

54 results

Results by year

Filters applied: . Clear all
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 …
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 I and type II, Argin …
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), …
Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A. Hassan A. Tremor Other Hyperkinet Mov (N Y). 2023 Mar 28;13:9. doi: 10.5334/tohm.747. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 37008993 Free PMC article. Review.
EA may also be caused by gene mutations associated with chronic ataxias (SCA-14, SCA-27, SCA-42, AOA2, CAPOS), epilepsy syndromes (KCNA2, SCN2A, PRRT2), GLUT-1, mitochondrial disorders (PDHA1, PDHX, ACO2), metabolic disorders (Maple syrup urine disease, Hartnup disease, type I …
EA may also be caused by gene mutations associated with chronic ataxias (SCA-14, SCA-27, SCA-42, AOA2, CAPOS), epilepsy syndromes (KCNA2, SC …
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.
SLC25A13 gene mutations are responsible for diseases related to citrin deficiency (CD), such as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset type II citrullinemia (CTLN2). From childhood to adulthood, CD patients are apparently healthy due …
SLC25A13 gene mutations are responsible for diseases related to citrin deficiency (CD), such as neonatal intrahepatic cholestasis caused by …
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. ...
Adult-onset type II citrullinemia (CTLN2), an autosomal recessive disorder caused by a mutation in the SLC25A13 gene, is characterize …
Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review.
Zhou Y, Dou X, Zhang C, He R, Ding Y. Zhou Y, et al. BMC Pregnancy Childbirth. 2022 Dec 19;22(1):950. doi: 10.1186/s12884-022-05298-3. BMC Pregnancy Childbirth. 2022. PMID: 36536326 Free PMC article. Review.
BACKGROUND: Citrullinemia type I (CTLN1) is a rare urea cycle disorder (UCD) with few adult cases described so far. ...
BACKGROUND: Citrullinemia type I (CTLN1) is a rare urea cycle disorder (UCD) with few adult cases described so far. ...
[Citrullinemia].
Matsuura T. Matsuura T. Ryoikibetsu Shokogun Shirizu. 2001;(33):452-4. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462512 Review. Japanese. No abstract available.
[CITRULLINURIA].
FREYCON F, FREYCON MT. FREYCON F, et al. Pediatrie. 1963;18:847-9. Pediatrie. 1963. PMID: 14106631 Review. French. No abstract available.
[Adult-onset citrullinemia].
Ikeda S. Ikeda S. Brain Nerve. 2007 Jan;59(1):59-66. Brain Nerve. 2007. PMID: 17354380 Review. Japanese.
Adult-onset citrullinemia (CTLN2) is a rare hereditary metabolic disorder characterized by highly increased concentration of citrulline and ammonia in the plasma, which is ascribed to a deficiency of argininosuccinate synthetase (ASS), one of the urea cycle enzymes mainly …
Adult-onset citrullinemia (CTLN2) is a rare hereditary metabolic disorder characterized by highly increased concentration of citrulli …
54 results