Results 51 to 60 of about 36,711 (394)

Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study.

Clinical Chemistry, 1999
BACKGROUND A38-year-old man presented with a history of fish odor (since age 5) and unusual muscle fatigue with increased serum creatine kinase. Our aim was to identify the metabolic error in this new condition.
S. H. Moolenaar, J. Poggi-Bach, U. Engelke, J. Corstiaensen, A. Heerschap, J. Jong, B. Binzak, J. Vockley, R. Wevers   +8 more
semanticscholar   +1 more source

Neonates with acute liver failure have higher overall mortality but similar posttransplant outcomes as older infants

Liver Transplantation, EarlyView., 2022
Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala, Bridget Whitehead, Justin Godown, Matt Hall, Anna Banc‐Husu, Estella M. Alonso, Sarah A. Taylor   +6 more
wiley   +1 more source

Gene identification for the cblD defect of vitamin B12 metabolism [PDF]

, 2008
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Baumgartner, M R, Coelho, D, Fowler, B, Lerner-Ellis, J P, Newbold, R F, Rosenblatt, D S, Stucki, M, Suormala, T   +7 more
core   +1 more source

Pineal cysts may promote pubertal development in girls with central precocious puberty: a single-center study from China

Frontiers in Endocrinology
IntroductionPineal cysts have long been considered a benign intracranial variation. However, in our clinical practice, it has been observed that some children with central precocious puberty (CPP) who have pineal cysts experience rapid progression in ...
Shuxian Yuan, Yifan Lin, Yixuan Zhao, Mengmeng Du, Shijie Dong, Yongxing Chen, Haiyan Wei   +6 more
doaj   +1 more source

Sir Archibald Garrod

Muller Journal of Medical Sciences and Research, 2013
When the history of inborn errors of metabolism is written, the name that will be mentioned foremost is that of Sir Archibald Garrod, who through his pioneering work on Alkaptonuria laid a solid foundation for this evolving specialty of medicine in the ...
K Varadaraj Shenoy, P Thara, M Sharmila
doaj   +1 more source

Carnitine Inborn Errors of Metabolism [PDF]

Molecules, 2019
Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%. Renal carnitine reabsorption along with dietary intake and endogenous production maintain carnitine homeostasis.
Mohammed Almannai, Majid Alfadhel, Ayman W. El-Hattab   +2 more
openaire   +3 more sources

LABRAD : Vol 39, Issue 2 - December 2013 [PDF]

, 2013
Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core   +1 more source

Hypoglycemia Induces Diabetic Macrovascular Endothelial Dysfunction via Endothelial Cell PANoptosis, Macrophage Polarization, and VSMC Fibrosis

Advanced Science, EarlyView.
This study investigates hypoglycemia‐induced diabetic macrovascular endothelial dysfunction. It reveals that hypoglycemia triggers ZBP1‐dependent PANoptosis of endothelial cells, proinflammatory polarization of macrophages, and fibrosis of vascular smooth muscle cells (VSMCs) in diabetic mice.
Deyu Zuo, Yuce Peng, Guozhi Zhao, Zhesheng Cheng, Minghao Luo, Dingyi Lv, Shuting Chang, Na Li, Yanyao Huang, Xunjia Li, An He   +10 more
wiley   +1 more source

Frequency inborn error of mitochondrial function in Mosul and Kurdistan region

Iraqi Journal of Pharmaceutical Sciences, 2020
This work aimed to estimate the frequency of mitochondrial inborn errors of metabolism (MIEMs) in patients presenting with family history and IEM-picture who referred for advance IEM assay in Mosul province and Kurdistan region.
Ashwaq N. Abbas, Mwafak K. Hasan, Muhammad A. Ahmed   +2 more
doaj   +3 more sources

Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency [PDF]

, 2001
Dimethylglycine dehydrogenase (DMGDH) (E.C. number 1.5.99.2) is a mitochondrial matrix enzyme involved in the metabolism of choline, converting dimethylglycine to sarcosine. Sarcosine is then transformed to glycine by sarcosine dehydrogenase (E.C. number
Agnini, Claudia, Blum, Nevin, Blum, Peter, Bohaty, Steven, Bown, Paul, Friedrich, Oliver, Greenop, Rosanna, Kordesch, Wendy, Leonhardt, Dominik, Liebrand, Diederik, Lippert, Peter, van Peer, Tim, Wilson, Paul, Xuan, Chuang   +13 more
core   +2 more sources