Results 51 to 60 of about 397 (122)
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency. [PDF]
, 2022 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).
Kunji, Edmund R S +7 more
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Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases
Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung +4 more
wiley +1 more source
Emergency Management of Intoxication‐Type Inherited Metabolic Disorders
Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley +1 more source
, 2019 Additional file 3: Table S2. Result of splice-site prediction.
Zhang, Linlin +8 more
openaire +1 more source
Liver International, Volume 45, Issue 1, January 2025.ABSTRACT Background The mitochondrial contact site and cristae organising system (MICOS) complex is required for cristae formation and is composed of seven proteins. Among the genes of MICOS complex, variants of MICOS13, IMMT and APOO have been reported to cause diseases.
Yoshihito Kishita +10 more
wiley +1 more source
, 2014 Objective To assess the diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) by using high-resolution melting (HRM) analysis and a clinical scoring system.
胡務亮 ;倪衍玄 ;張美惠 ;張正琪 ;李妮鍾 ;簡穎秀 ;蘇怡寧 ;陳思達 ;陳慧玲 +1 more
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, 2017 Citrullinemia is the earliest identifiable biochemical abnormality in neonates with intrahepatic cholestasis due to a citrin deficiency (NICCD) and it has been included in newborn screening panels using tandem mass spectrometry. However, only one neonate
Masayoshi Nagao +3 more
core +1 more source
, 2010 OBJECTIVES: To identify facial and biochemical characteristics as early clinical features of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD).
CHEN, HUNG-WEN;CHEN, HUEY-LING;NI, YEN- HSUAN;LEE, NI-CHUNG;CHIEN, YIN-HSIU;HWU, WUH-LIANG;HUANG, YUAN-TE;CHIU, PAO-CHIN;CHANG, MEI-HWEI +1 more
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Journal of Pediatric Gastroenterology and Nutrition, Volume 78, Issue 2, Page 178-187, February 2024.Citrin deficiency: a metabolic disorder causing neonatal cholestasis and steatosis. Abstract Citrin deficiency is an autosomal recessive metabolic liver disease caused by mutations in the SLC25A13 gene. The disease typically presents with cholestasis, elevated liver enzymes, hyperammonemia, hypercitrullinemia, and fatty liver in young infants ...
Ayano Inui +9 more
wiley +1 more source
Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life [PDF]
, 2010 We report two Malaysian siblings with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The younger sibling, a six-month-old Chinese girl, presented with prolonged neonatal jaundice, and was investigated for biliary atresia.
Sheng, J.S. +4 more
core +2 more sources