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Quoted phrase not found in phrase index: "Disorder of other vitamins and cofactors metabolism and transport"
Page 1
Vitamin B(12) status in health and disease: a critical review. Diagnosis of deficiency and insufficiency - clinical and laboratory pitfalls.
Sobczyńska-Malefora A, Delvin E, McCaddon A, Ahmadi KR, Harrington DJ. Sobczyńska-Malefora A, et al. Crit Rev Clin Lab Sci. 2021 Sep;58(6):399-429. doi: 10.1080/10408363.2021.1885339. Epub 2021 Apr 21. Crit Rev Clin Lab Sci. 2021. PMID: 33881359 Review.
Vitamin B(12) (cobalamin) is an essential cofactor for two metabolic pathways. ...Increased physician vigilance and heightened patient awareness often account for its early presentation, and testing sometimes occurs during a phase of vitamin B(12) insu …
Vitamin B(12) (cobalamin) is an essential cofactor for two metabolic pathways. ...Increased physician vigilance and hei …
Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G. Plantone D, et al. Clin Drug Investig. 2021 Jun;41(6):513-527. doi: 10.1007/s40261-021-01038-1. Epub 2021 Apr 22. Clin Drug Investig. 2021. PMID: 33886098 Review.
Riboflavin is classified as one of the water-soluble B vitamins. It is part of the functional group of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) cofactors and is required for numerous flavoprotein-catalysed reactions. ...Brown-Vialetto-Van La …
Riboflavin is classified as one of the water-soluble B vitamins. It is part of the functional group of flavin mononucleotide (FMN) an …
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA. Sperl W, et al. J Inherit Metab Dis. 2015 May;38(3):391-403. doi: 10.1007/s10545-014-9787-3. Epub 2014 Dec 20. J Inherit Metab Dis. 2015. PMID: 25526709 Review.
PODs are not only caused by deficiency of subunits of the pyruvate dehydrogenase complex (PDHC) but also by various disorders recently described in the whole pyruvate oxidation route including cofactors, regulation of PDHC and the mitochondrial pyruvate carrier. ... …
PODs are not only caused by deficiency of subunits of the pyruvate dehydrogenase complex (PDHC) but also by various disorders recentl …
Leukoencephalopathies associated with disorders of cobalamin and folate metabolism.
Wilcken B. Wilcken B. Semin Neurol. 2012 Feb;32(1):68-74. doi: 10.1055/s-0032-1306389. Epub 2012 Mar 15. Semin Neurol. 2012. PMID: 22422209 Review.
Disorders of cobalamin and folate intracellular metabolism that result in defective remethylation of homocysteine to methionine are associated with leukodystrophy, whereas disorders of cobalamin transport generally are not. ...The most common disord …
Disorders of cobalamin and folate intracellular metabolism that result in defective remethylation of homocysteine to methionin …
Regulation of vitamin C transport.
Wilson JX. Wilson JX. Annu Rev Nutr. 2005;25:105-25. doi: 10.1146/annurev.nutr.25.050304.092647. Annu Rev Nutr. 2005. PMID: 16011461 Review.
More important are specific mechanisms of transport and metabolism that concentrate vitamin C intracellularly to enhance its function as an enzyme cofactor and antioxidant. The known transport mechanisms are facilitated diffusion of DHAA through …
More important are specific mechanisms of transport and metabolism that concentrate vitamin C intracellularly to enhanc …
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).
Horvath R. Horvath R. J Inherit Metab Dis. 2012 Jul;35(4):679-87. doi: 10.1007/s10545-011-9434-1. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231380 Review.
Riboflavin and ubiquinone (Coenzyme Q(10), CoQ(10)) deficiencies are heterogeneous groups of autosomal recessive conditions affecting both children and adults. Riboflavin (vitamin B(2))-derived cofactors are essential for the function of numerous dehydrogenases. ... …
Riboflavin and ubiquinone (Coenzyme Q(10), CoQ(10)) deficiencies are heterogeneous groups of autosomal recessive conditions affecting both c …
Vitamin B12 in health and disease: part I--inherited disorders of function, absorption, and transport.
Kapadia CR. Kapadia CR. Gastroenterologist. 1995 Dec;3(4):329-44. Gastroenterologist. 1995. PMID: 8775094 Review.
All of vitamin B12 in nature is of microbial origin. Cobalamin, as vitamin B12 should correctly be termed, is a large polar molecule that must be bound to specialized transport proteins to gain entry into cells. Entry from the lumen of the intestine un …
All of vitamin B12 in nature is of microbial origin. Cobalamin, as vitamin B12 should correctly be termed, is a large polar mo …
Mitochondrial encephalomyopathies: therapeutic approach.
Dimauro S, Mancuso M, Naini A. Dimauro S, et al. Ann N Y Acad Sci. 2004 Apr;1011:232-45. doi: 10.1196/annals.1293.023. Ann N Y Acad Sci. 2004. PMID: 15126300
Attempts to bypass blocks in the respiratory chain by administration of artificial electron acceptors have not been successful, but this concept may be amenable to genetic engineering. Administration of metabolites and cofactors is the mainstay of real-life therapy and inc …
Attempts to bypass blocks in the respiratory chain by administration of artificial electron acceptors have not been successful, but this con …
FRET-based probe for ratiometric detection and imaging of folic acid in real-time.
Irfan, Soleja N, Mohsin M. Irfan, et al. Anal Biochem. 2023 Oct 15;679:115285. doi: 10.1016/j.ab.2023.115285. Epub 2023 Aug 14. Anal Biochem. 2023. PMID: 37586674
Inadequate folic acid intake is linked to diseases such as megaloblastic anemia, neural tube defects, and hyperhomocysteinemia, increasing the risk of vascular disease and thrombosis. Folic acid, a cofactor in various enzymes, can be produced by plants and bacteria, …
Inadequate folic acid intake is linked to diseases such as megaloblastic anemia, neural tube defects, and hyperhomocysteinemia, increasing t …
Cerebrospinal Fluid Biogenic Monoamine Analysis for Diagnosis of Primary Neurotransmitter Disorders.
Lokhande RV, Dherai AJ, Bhagure GR, Udani VP, Kulkarni SD, Ashavaid TF. Lokhande RV, et al. Indian J Pediatr. 2021 Dec;88(12):1241-1243. doi: 10.1007/s12098-021-03956-6. Epub 2021 Sep 20. Indian J Pediatr. 2021. PMID: 34541626
Biogenic amine neurotransmitters metabolism is a multistep pathway with pterin and pyridoxal phosphate (vitamin B6) as cofactors. A defect in biogenic amine and cofactor metabolism and vesicular transporters result in a primary neurotrans …
Biogenic amine neurotransmitters metabolism is a multistep pathway with pterin and pyridoxal phosphate (vitamin B6) as cofa …
13 results