Results 71 to 80 of about 115,827,059 (170)

Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Citrin deficiency (CD) is a complex mitochondrial disease with three different age‐related stages: neonatal intrahepatic cholestasis caused by CD (NICCD), failure to thrive and dyslipidemia caused by CD (FTTDCD), and type II citrullinemia (CTLN2), recently renamed adolescent and adult CD (AACD).
Denis Lacabanne, Alice P. Sowton, Bosco Jose, Edmund R. S. Kunji, Sotiria Tavoulari   +4 more
wiley   +1 more source

Long‐term neurodevelopmental outcomes following liver transplantation for metabolic disease‐a single centre experience

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract This study describes the neurodevelopmental outcome of children with urea cycle disorders (UCD) and organic acidemias (OA) preliver transplant (LT), 1‐year, and 3‐years post‐LT. We performed a retrospective chart review of children with OA or UCD transplanted between January 2014 and December 2021.
Catherine Patterson, Anna Gold, Stephanie So, Leila Kahnami, Michaela Dworsky‐Fried, Eva Mamak, Alaine Rogers, Andreas Schulze, Birgit Ertl‐Wagner, Vicky Ng, Yaron Avitzur   +10 more
wiley   +1 more source

Ex vivo precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases [version 2; peer review: 2 approved]

F1000Research
Background In academic research and the pharmaceutical industry, in vitro cell lines and in vivo animal models are considered as gold standards in modelling diseases and assessing therapeutic efficacy.
Andrea Frassetto, Julien Baruteau, Lisa Rice, Paolo G.V. Martini, Alex Cavedon, Summar Siddiqui, Neil Sebire, Patrick F Finn, Claire Duff, Garima Sharma, Sonam Gurung, Loukia Touramanidou, Dany Perocheau   +12 more
doaj   +1 more source

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

Molecular Genetics and Metabolism Reports, 2018
Background: Expanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs), and amino acid disorders (AAs), is increasingly ...
Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Vu Chi Dung, Nguyen Ngoc Khanh, Ishwar C. Verma, Sunita Bijarnia-Mahay, Dong Hwan Lee, Dau-Ming Niu, Georg F. Hoffmann, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Fukuda, Takeshi Taketani, Seiji Yamaguchi   +17 more
doaj   +1 more source

My path to citrin deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Citrin belongs to the SLC25 transport protein family found mostly in inner mitochondrial membranes. The family prototype, the ADP–ATP carrier, delivers ATP made inside mitochondria to the cellular cytoplasm and returns ADP to the mitochondrion for resynthesis of ATP.
John E. Walker
wiley   +1 more source

Nutritional support therapy for liver transplantation in an adult-onset type II citrullinemia patient: a case report

Frontiers in Nutrition
Liver transplantation is an effective measure to treat adult-onset type II citrullinemia (CTLN2). Active and effective perioperative nutrition support is a very important treatment for the prognosis of such patients.
Yao Du, Yang-Yang Fu, Yang Yue, Bing Han, Wen-Jie Zhang, De-Cai Yu, Xiao-Jie Bian, Xiao-Jie Bian   +7 more
doaj   +1 more source

Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants

BMC Gastroenterology, 2012
Background The most common causes of cholestatic jaundice are biliary atresia and idiopathic neonatal hepatitis (INH). Specific disorders underlying INH, such as various infectious and metabolic causes, including neonatal intrahepatic cholestasis caused ...
Treepongkaruna Suporn, Jitraruch Suttiruk, Kodcharin Porawee, Charoenpipop Dussadee, Suwannarat Pim, Pienvichit Paneeya, Kobayashi Keiko, Wattanasirichaigoon Duangrurdee   +7 more
doaj   +1 more source

Investigating myelin oligodendrocyte glycoprotein antibodies in hereditary citrullinemia

, 2022
Metabolites like lipids, amino acids or peptides can affect the immune system. Citrulline is an amino acid that activates several inflammatory pathways.
Oncel, Ibrahim, Yousefi, Mohammadreza, Karaca, Meryem, GÜCÜYENER, KIVILCIM, TEKE KISA, PELİN, Anlar, Banu, ARSLAN, NUR, ARSLAN GÜLTEN, ZÜMRÜT, İNCİ, ASLI, Gunduz, Mehmet, TÜMER, LEYLA, Vural, Atay, Unal, Ozlem, KOR, DENİZ, Oncel, İBRAHİM HALİL, Mungan, Neslihan Onenli, Kivilcim Gucuyener, Neslihan Onenli Mungan, Deniz Kor, Leyla Tumer, Banu Anlar, Ibrahim Oncel, Atay Vural, Özlem Unal, Mehmet Gunduz, Zumrut Arslan Gulten, Meryem Karaca, Asli Inci, Pelin Teke Kisa, Nur Arslan, Mohammadreza Yousefi   +30 more
core   +1 more source

No evidence of an association between lethal recessives citrullinemia, jersey haplotype 1, congenital muscular dystonia 1 and milk production and composition in Irish dairy cattle

, 2018
The purpose of this study was to ascertain if carriers of lethal recessive genetic disorders: citrullinemia, jersey haplotype1 (JH1) and congenital muscular dystonia 1 (CMD 1) were associated with positive or negative effects on milk production traits ...
Ratcliffe, Lyndsey, McClure, Jennifer, Flores, David F.G., Mullen, Michael P., Kearney, Francis, McClure, Matthew, Quigley, Katie   +6 more
core   +1 more source

Citrullinemia stimulation test in the evaluation of the intestinal function [PDF]

, 2013
Background: Citrullinemia is been reported as a quantitative parameter of the enterocyte mass and function. Aim: The objective of this research is to analyse the value of fasting and stimulated citrullinemias in the intestinal function evaluation ...
Veríssimo,Caria, Serôdio,Marco, Simões,Marta, Pinto Costa,Beatriz, Castro Sousa,F., Grazina,Manuela   +5 more
core