Results 81 to 90 of about 115,827,059 (170)

High Blood Pressure in a Urea Cycle Disorder: Case Report.

, 2020
Introduction  Urea cycle disorders (UCDs) form a group of metabolic pathological conditions that might develop serious neurological consequences. Early diagnosis, before irreversible damage is established, is the most important prognostic and morbidity ...
Arriaga, María, Solé, Carolina, Cañedo, Elvira   +2 more
core   +1 more source

The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia

Obstetrics & Gynecology Science, 2014
Type 1 citrullinemia (CTLN1) is an autosomal recessive inherited metabolic disorder caused by anargininosuccinicnate synthetase deficiency. The patient was a 38-year-old Korean woman who is a carrier for CTLN1 and her first baby was diagnosed with CTLN1.
Cho, Jae-Hyun, Kim, Chung-Hoon, Lee, Kyung-Hee, Jeon, Il-Kyung, Kim, Jae-Min, Kang, Byung-Moon   +5 more
openaire   +2 more sources

Citrullinemia: clinical experience with 23 cases

, 1998
A retrospective study was performed on the clinical outcome of 23 patients with citrullinemia diagnosed during the last 20 years in our clinic. The study group consisted of 13 patients with the neonatal form of the disease, four patients with the ...
Ayşegül Tokatlı, Turgay Coşkun, İmran Özalp   +2 more
core   +1 more source

Dietary management and outcome of newly diagnosed pregnant woman with citrullinemia type 1

Journal of inherited metabolic disease, 2015
Background and objective: Citrullinemia type 1 (CTLN 1) is a rare autosomal recessive disorder caused by deficiency of argininosuccinate synthetase. CTLN1 presents as a clinical spectrum ranging from classic neonatal form to late-onset and even asymptomic form.
Uroić, Valentina, Mesarić, Nikola, Pavić, Eva, Petković Ramadža, Danijela, Sarnavka, Vladimir, Fumić, Ksenija, Škaričić, Ana, Grgić Medić, Marijana, Zlopaša, Ozrenka, Gašparović, Vladimir, Elveđi Gašparović, Vesna, Barić, Ivo   +11 more
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Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult‐onset type II citrullinemia

, 1995
Deficiency of argininosuccinate synthetase (ASS) causes citrullinemia. Type II citrullinemia is found in most patients with adult-onset citrullinemia in Japan, and ASS is deficient specifically in the liver.
Keiko Kobayashi, Hiroki Terazono, Takuro Shinsato, Masanori Nakata, Takeyori Saheki   +4 more
core   +1 more source

Slc25a13 Gene Mutations in Taiwanese Patients with Non-Viral Hepatocellular Carcinoma

, 2012
Mutations of the SLC25A13 gene, which encodes citrin, result in adult- onset type II citrullinemia CTLN2. Because CTLN2 has been associated with hepatocellular carcinoma HCC and may be involved in hepatocarcinogenesis, the objective of this study was to ...
CHANG, KUEI-WEN;CHEN, HUEY-LING;CHIEN, YIN-HSIU;CHEN, TSE-CHING, 張魁文;陳慧玲;簡穎秀;陳澤卿   +1 more
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Urea Cycle Disorders in Neonates: Six Case Reports

, 2017
Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation. In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases)
Terek, Demet, Celik, Kiymet, Olukman, Ozgur, Kagnici, Mehtap, Calkavur, Sebnem, Gozmen, Sukran Keskin, Arslanoglu, Sertac, Serdaroglu, Erkin   +7 more
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Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia

, 2014
Background: Citrin, encoded by SLC25A13, is a component of the malate-aspartate shuttle, which is the main NADH-transporting system in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), which usually resolves within the first ...
Chikahiko Numakura, Takeo Kato, Kentaro Toyota, Hiroshi Takahashi, Yoshiyuki Ueno, Mitsunori Yamakawa, Hiroyuki Nunoi, Hiroaki Haga, Yoshimi Takahashi, Satoru Kakizaki, Hisayoshi Watanabe, Mieko Kaneko, Kiyoshi Hayasaka, Masatomo Mori   +13 more
core   +1 more source

Homozygous Slc25a13 Mutation in a Taiwanese Patient with Adult-Onset Citrullinemia Complicated with Steatosis and Hepatocellular Carcinoma

, 2009
Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene.
蔡靜瑋;楊智超;陳慧玲;胡務亮;吳木榮;劉高郎;吳明賢, TSAI, CHING-WEI;YANG, CHIH-CHAO;CHEN, HUEY-LING;HWU, WUH-LIANG;WU, MU-ZON;LIU, KAO-LANG;WU, MING-SHIANG   +1 more
core  

Citrullinemia Type 1: A Rare Case

Annals of International medical and Dental Research, 2017
Garima Biyani, Syed Md Azad, Souvik Guha, Rohit Kapoor   +3 more
openaire   +1 more source