Results 131 to 140 of about 5,012,650 (270)

Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]

open access: yes, 1992
__Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim)   +1 more
core   +2 more sources

A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans

open access: yesFEBS Open Bio, 2014
In this study, we showed that cyanocobalamin dodecylamine, a ribose 5′-carbamate derivative of cyanocobalamin, was absorbed and accumulated to significant levels by Caenorhabditis elegans and was not further metabolized.
Tomohiro Bito   +4 more
doaj   +1 more source

Methylmalonic acid quantified in dried blood spots provides a precise, valid, and stable measure of functional vitamin B-12 status in healthy women.

open access: yesJournal of NutriLife, 2014
Methylmalonic acid (MMA) is a sensitive and specific functional biomarker of vitamin B-12 status, commonly assessed in plasma or serum. Dried blood spots (DBSs) allow simpler and more cost-efficient blood sampling than plasma.
Theresa H. Schroder, T. Quay, Y. Lamers
semanticscholar   +1 more source

Cloning and expression of the Propionibacterium shermanii methylmalonyl-CoA epimerase gene in Escherichia coli : a thesis presented in partial fulfilment of the requirements for the degree of Master of Science in Biochemistry at Massey University [PDF]

open access: yes, 1994
Genomic DNA was isolated from Propionibacterium shermanii (52W). A 454 bp DNA fragment coding for the methylmalonyl-CoA epimerase (EC 5.1.99.1, subsequently referred to as epimerase) was amplified from genomic DNA by the polymerase chain reaction using ...
Saafi, 'Etuate Lui
core  

Methylmalonic Acidemia with Renal Involvement: A Case Report and Review of Literature

open access: yesSaudi Journal of Kidney Diseases and Transplantation, 2001
Methylmalonic acidemia (MMA) is an inborn error of metabolism that results in the accumulation in blood, and increased excretion in the urine of, methylmalonic acid.
Srinivas K   +3 more
doaj  

Case Report: A Case of Gait Disorder Due to Combined Methylmalonic Aciduria and Homocystinuria

open access: yesJournal of Rehabilitation, 2000
This disorder is too rare that about 100 patients have been reported in the world. In this condition a liver enzyme (methylmalonyl CoA mutase) which should carry out one of many thousands of chemical processes that turn protein into energy or body ...
Firouzeh Sajedi
doaj  

Reference intervals for plasma vitamin B12 and plasma/serum methylmalonic acid in Danish children, adults and elderly.

open access: yesClinica chimica acta; international journal of clinical chemistry, 2021
Abildgaard Anders   +4 more
semanticscholar   +1 more source

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