Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]
__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
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
Dietary depletion of vitamin B12and the excretion of methylmalonic acid in the rat [PDF]
D. L. Williams+3 more
openalex +1 more source
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]
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
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
Cobalamin (vitamin B12) deficiency detection by urinary methylmalonic acid quantitation [PDF]
E Norman, OJ Martelo, MD Denton
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Studies on methylmalonic acid in humans. II. Relationship between concentrations in serum and urinary excretion, and the correlation between serum cobalamin and accumulation of methylmalonic acid. [PDF]
K. Rasmussen, L. Moelby, Märit Jensen
openalex +1 more source
Case Report: A Case of Gait Disorder Due to Combined Methylmalonic Aciduria and Homocystinuria
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
Abildgaard Anders+4 more
semanticscholar +1 more source