Results 51 to 60 of about 2,741,348 (370)
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 +2 more
openaire +3 more sources
Threonine dehydratase deficiency: A probable cause of non‐ketotic hyperglycinaemia [PDF]
, 1984 A patient with classical symptoms of non‐ketotic hyperglycinaemia (NKH) is presented. Threonine dehydratase was undetectable in a liver autopsy specimen, which was obtained within 1 h of death and immediately frozen at −70 °C.
Booth, F., Krieger, I.
core +1 more source
Frontiers in EndocrinologyIntroductionPineal 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 +6 more
doaj +1 more source
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
Mass Conservation And Inference of Metabolic Networks from High-throughput Mass Spectrometry Data [PDF]
J Comput Biol, vol. 18 (2) pp. 147-54, 2011, 2010 We present a step towards the metabolome-wide computational inference of cellular metabolic reaction networks from metabolic profiling data, such as mass spectrometry. The reconstruction is based on identification of irreducible statistical interactions among the metabolite activities using the ARACNE reverse-engineering algorithm and on constraining ...
arxiv +1 more source
Impaired biotin status in anticonvulsant therapy [PDF]
, 1982 In 264 epileptics undergoing long-term therapy with anticonvulsants, significantly reduced plasma biotin levels were found compared with a normal control group: 74% of the epileptics had biotin levels for those treated with sodium valproate were higher ...
Bonjour +7 more
core +1 more source
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
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Advanced Healthcare Materials, EarlyView.This proof‐of‐concept study involves high‐throughput teratogenicity screening of compounds using XEn/EpiCs, a 3D stem cell‐based embryo model, within microwells. The term ‘morphotoxicity’ is introduced to complement traditional cytotoxicity assays through automated feature extraction and machine‐learning‐assisted classification of morphologies.
Vinidhra Shankar +4 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 +2 more
doaj +3 more sources
ORTHOTOPIC LIVER TRANSPLANTATION FOR WILSON'S DISEASE [PDF]
, 1971 An 11-year-old boy with terminal hepatic failure due to Wilson's disease was treated 18 months ago with orthotopic liver transplantation. Postoperatively, there has been evidence of clearance of body copper stores but without accumulation of copper in ...
Dubois, RS +9 more
core +1 more source