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Quoted phrase not found in phrase index: "Adult-onset citrullinemia type I"
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 …
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
The disease can present with age-dependent clinical manifestations: neonatal intrahepatic cholestasis by citrin deficiency (NICCD), failure to thrive, and dyslipidemia by citrin deficiency (FTTDCD), and adult-onset type II citrullinemia (CTLN2). As a nationwi …
The disease can present with age-dependent clinical manifestations: neonatal intrahepatic cholestasis by citrin deficiency (NICCD), failure …
Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia.
Hayasaka K, Numakura C, Yamakawa M, Mitsui T, Watanabe H, Haga H, Yazaki M, Ohira H, Ochiai Y, Tahara T, Nakahara T, Yamashiki N, Nakayama T, Kon T, Mitsubuchi H, Yoshida H. Hayasaka K, et al. J Inherit Metab Dis. 2018 Sep;41(5):777-784. doi: 10.1007/s10545-018-0176-1. Epub 2018 Apr 12. J Inherit Metab Dis. 2018. PMID: 29651749
Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). Citrin deficiency is predicted to impair hepatic glycolysis and de novo lipogenesis, resulting in hepatic energy deficit. ...
Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). Citri …
Magnetic resonance spectroscopy in adult-onset citrullinemia: elevated glutamine levels in comatose patients.
Wong YC, Au WL, Xu M, Ye J, Lim CC. Wong YC, et al. Arch Neurol. 2007 Jul;64(7):1034-7. doi: 10.1001/archneur.64.7.1034. Arch Neurol. 2007. PMID: 17620496
BACKGROUND: Adult-onset type II citrullinemia is an inborn error of urea cycle metabolism that can lead to hyperammonemic encephalopathy and coma. However, type II citrullinemia is rare outside Japan, and diagnosis and treatment can be delayed. ...
BACKGROUND: Adult-onset type II citrullinemia is an inborn error of urea cycle metabolism that can lead to hyperammonem …
A case of adult-onset type II citrullinemia--deterioration of clinical course after infusion of hyperosmotic and high sugar solutions.
Takahashi H, Kagawa T, Kobayashi K, Hirabayashi H, Yui M, Begum L, Mine T, Takagi S, Saheki T, Shinohara Y. Takahashi H, et al. Med Sci Monit. 2006 Feb;12(2):CS13-5. Epub 2006 Jan 26. Med Sci Monit. 2006. PMID: 16449956
BACKGROUND: Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disorder caused by mutations of SLC25A13 gene encoding citrin and is characterized by recurrent encephalopathy with hyperammonemia. Factors affecting disease progression remain un …
BACKGROUND: Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disorder caused by mutations of SLC25A1 …
Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.
Sinasac DS, Crackower MA, Lee JR, Kobayashi K, Saheki T, Scherer SW, Tsui LC. Sinasac DS, et al. Genomics. 1999 Dec 1;62(2):289-92. doi: 10.1006/geno.1999.6006. Genomics. 1999. PMID: 10610724
Citrullinemia is an autosomal recessive disease characterized by an argininosuccinate synthetase (ASS) deficiency. Adult-onset type II citrullinemia (CTLN2) is a form of the disease that is defined by a quantitative decrease in ASS protein, but with no …
Citrullinemia is an autosomal recessive disease characterized by an argininosuccinate synthetase (ASS) deficiency. Adult-on …
An autopsy case with adult onset type II citrullinemia showing myelopathy.
Tazawa K, Shimojima Y, Okano T, Yazaki M, Takei Y, Shimojo H, Kobayashi K, Saheki T, Ikeda S. Tazawa K, et al. J Neurol Sci. 2007 Feb 15;253(1-2):77-80. doi: 10.1016/j.jns.2006.11.014. Epub 2007 Jan 2. J Neurol Sci. 2007. PMID: 17196992
Hepatic myelopathy is a rare neurological complication in patients with chronic liver failure and most patients who suffered from this disorder were demonstrated to have portal-systemic shunt. A 31-year-old man who was diagnosed as having adult-onset type II citr …
Hepatic myelopathy is a rare neurological complication in patients with chronic liver failure and most patients who suffered from this disor …
The Lack of Hepatocyte Steatosis in Adult-onset Type II Citrullinemia Patients as Assessed by 7-year Interval Paired Biopsies.
Suzuki H, Kawamura Y, Kinowaki K, Akuta N, Kasuya K, Fujiyama S, Sezaki H, Hosaka T, Saitoh S, Kobayashi M, Kobayashi M, Arase Y, Ikeda K, Suzuki F, Suzuki Y, Kumada H. Suzuki H, et al. Intern Med. 2019 Jul 1;58(13):1891-1895. doi: 10.2169/internalmedicine.2374-18. Epub 2019 Feb 25. Intern Med. 2019. PMID: 30799367 Free PMC article.
Adult-onset type II citrullinemia (CTLN2) is a urea cycle disease characterized by neurological and psychiatric abnormalities associated with hyperammonemia. ...
Adult-onset type II citrullinemia (CTLN2) is a urea cycle disease characterized by neurological and psychiatric abnorma …
A 6-Year-Old Child With Citrin Deficiency and Advanced Hepatocellular Carcinoma.
Wang L, Wang L, Zhu S, Zhang M, Dong Y, Wang FS. Wang L, et al. Pediatrics. 2019 Jan;143(1):e20181931. doi: 10.1542/peds.2018-1931. Pediatrics. 2019. PMID: 30591617
He preferred a high-protein, high-fat, low-carbohydrate diet, which has been observed in many patients with citrin deficiency, but no clinical features of adult-onset type II citrullinemia were observed. At the age of 6 years, he was admitted to our hospital …
He preferred a high-protein, high-fat, low-carbohydrate diet, which has been observed in many patients with citrin deficiency, but no clinic …
Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles.
Tanaka T, Nagao M, Tsutsumi H. Tanaka T, et al. Tohoku J Exp Med. 2002 Oct;198(2):89-97. doi: 10.1620/tjem.198.89. Tohoku J Exp Med. 2002. PMID: 12512993 Free article.
Type II citrullinemia (CTLN2) is characterized by a deficiency of argininosuccinate synthetase (ASS) in the liver. ...
Type II citrullinemia (CTLN2) is characterized by a deficiency of argininosuccinate synthetase (ASS) in the liver. ...
26 results