Results 51 to 60 of about 2,676,573 (175)
Update on Viral Gene Therapy Clinical Trials for Retinal Diseases [PDF]
, 2022 In 2001, the first large animal was successfully treated with a gene therapy that restored its vision. Lancelot, the Briard dog that was treated, suffered from a human childhood blindness called Leber's congenital amaurosis type 2.
Cheng, Shun-Yun, Punzo, Claudio
core +1 more source
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions. [PDF]
PLoS ONE, 2016 Large indels are commonly identified in patients but are not detectable by routine Sanger sequencing and panel sequencing. We specially designed a multi-gene panel that could simultaneously test known large indels in addition to ordinary variants, and ...
Neng-Li Wang +10 more
doaj +1 more source
, 2017 Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a hereditary metabolic disease arising from biallelic mutations of SLC25A13. This study aimed to explore the characteristics of fasting blood glucose (FBG), fasting insulin (FINS ...
Chun-Ting Lu +4 more
core +1 more source
Clinical Case Reports, Volume 14, Issue 10, October 2026.ABSTRACT In an infant with cholestasis and recurrent hypoglycemia, the combination of hypercitrullinemia, hypermethioninemia, and hyperthreoninemia should prompt testing for citrin deficiency, because early metabolic and genetic diagnosis allows targeted nutritional treatment and rapid clinical improvement.
Julien Neveu +4 more
wiley +1 more source
Urinary reducing substances in neonatal intrahepatic cholestasis caused by citrin deficiency
Journal of Pediatric and Neonatal Individualized Medicine, 2014 Neonatal cholestasis due to citrin deficiency is an autosomal recessive metabolic disorder caused by mutations in SLC25A13 gene. Mutations in this gene have a relatively high prevalence in East-Asian races compared to European or Afro-Caribbean races ...
Ajmal Kader +4 more
doaj +1 more source
Fifteen novel mutations in the SLC25A13 gene of citrin-deficient patients from different countries.
, 2013 The bold black letters denote the novel mutations, “N” indicates the normal SLC25A13 allele, while “–” means not analyzed. The effects and frequency refer to the corresponding novel mutations. The frequency was calculated based on the screening result by
Mei Deng (460870) +16 more
core +1 more source
Amino Acid and Lipid Metabolism in Cancer: Mechanisms and Therapeutic Opportunities
MedComm, Volume 7, Issue 8, August 2026.Amino Acid and lipid metabolism in cancer: (A) Regulation of Amino acid transportation and metabolism in cancer. (B) The core organization of lipid metabolic reprogramming in cancer and their functional consequences. ABSTRACT Metabolic reprogramming is a defining feature of cancer and a major contributor to immune escape.
Zixu Wang +4 more
wiley +1 more source
Hepatic adaptation compensates inactivation of intestinal arginine biosynthesis in suckling mice. [PDF]
PLoS ONE, 2013 Suckling mammals, including mice, differ from adults in the abundant expression of enzymes that synthesize arginine from citrulline in their enterocytes.
Vincent Marion +6 more
doaj +1 more source
The malate–aspartate shuttle supports thermogenic lipid mobilization in brown adipocytes
The FEBS Journal, Volume 293, Issue 15, Page 4489-4507, August 2026.Brown fat cells burn lipids within their mitochondria to generate heat. This process involves two energy “shuttles,” one of which is naturally blocked during heat production. We found that the second shuttle (MASh) is not required to generate heat. However, when MASh is disabled, the fatty acids meant for fuel are instead converted back into stored fat.
Michaela Veliova +12 more
wiley +1 more source
American Journal of Ophthalmology Case ReportsPurpose: To report a 15 year old girl with citrullinemia type 1 and 2 accompanied by neurologic signs and symptoms and a novel ocular complaint in cornea like tyrosinemia type 2.
Davoud Amirkashani +5 more
doaj +1 more source