Results 51 to 60 of about 451,717 (162)
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review. [PDF]
Hum MutatCitrin deficiency (CD) is an autosomal recessive disorder caused by the absence or dysfunction of the mitochondrial transporter citrin, resulting from mutations in SLC25A13.
Kido J +7 more
europepmc +3 more sources
Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition. [PDF]
J Inherit Metab DisCitrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in SLC25A13. The clinical manifestation is very variable and comprises three types: neonatal intrahepatic cholestasis caused by citrin deficiency ...
Kido J, Makris G, Santra S, Häberle J.
europepmc +2 more sources
Information of large indels identified in 5 citrin deficiency patients.
, 2016 Information of large indels identified in 5 citrin deficiency patients.
Mei-Hong Zhang (3195720) +10 more
core +1 more source
Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia
Open Medicine, 2021 Adult-onset citrullinaemia type II (CTLN2) is a rare disease in Chinese patients. As a subtype of citrin deficiency (CD), it is an autosomal recessive disease related to the SLC25A13 mutation on chromosome 7q21.3. In this study, we report a case of CTLN2
Chen Pingrun +3 more
doaj +1 more source
Six cases of citrin deficiency in Korea
International Journal of Molecular Medicine, 2007 Citrin deficiency resulting from mutations of the SLC25A13 gene is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2). In Korea, 6 cases of citrin deficiency were diagnosed based on biochemical and molecular findings.
Jung Min, Ko +8 more
openaire +3 more sources
Molecular Genetics and Metabolism Reports, 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 ...
Kiyoshi Hayasaka +13 more
doaj +1 more source
, 2007 Citrin is the liver-type mitochondrial aspartate-glutamate carrier that participates in urea, protein, and nucleotide biosynthetic pathways by supplying aspartate from mitochondria to the cytosol.Citrin also plays a role in transporting cytosolic NADH ...
Saheki, T +17 more
core +1 more source
Transcriptomic Profiling of SLC and ABC Transporters in the Human Term Placenta
Clinical Pharmacology &Therapeutics, EarlyView.Solute carriers (SLC) and ATP‐binding cassette (ABC) transporters are essential for placental solute exchange and fetal protection, yet their transcriptomic profiles in the human placenta remain poorly characterized. Although fetal sex influences placental development and function, its impact on transporter expression is unclear.
Elijah Marsh Jung +12 more
wiley +1 more source
, 2015 Citrin deficiency: an infant incidentally detected by phenylketonuria screening with a novel mutation in SLC25A13 gene: We report the first Turkish patient with citrin deficiency detected incidentally by phenylketonuria screening.
Erkan, T. +5 more
core +2 more sources
From Inner Capacities to Global Outcomes: Social–Emotional Capital as a Driver of SDG Performance
Sustainable Development, EarlyView.ABSTRACT Despite unprecedented global commitment to the 2030 Agenda, progress toward the sustainable development goals (SDGs) continues to lag in ways that structural, institutional, and resource‐based explanations do not fully explain. This study argues that a critical missing dimension is human: the psychological and relational capacities that enable
Mohamed Nassar +3 more
wiley +1 more source