Results 141 to 150 of about 76,676 (194)

Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases. [PDF]

Int J Neonatal Screen
Meijer NWF, Koop K, Maase RE, Hall PL, Visser WF, Oussoren E, Bosch AM, Heiner-Fokkema MR, de Sain-van der Velden MGM.   +8 more
europepmc   +1 more source

The Expanding Reactivity of Cobamide-Containing Proteins: From Mechanistic Understanding to Non-native Biocatalysis. [PDF]

ACS Catal
Kumar A, Lewis JC.
europepmc   +1 more source

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy. [PDF]

Mol Genet Metab Rep
Guertin A, Khanna RK, Tardieu M, François M, Blasco H, de Bretagne IB, Benoist JF, Bigot A, Tressel N, Maillot F, Labarthe F.   +10 more
europepmc   +1 more source

<i>In vitro</i> metabolic signaling in two intestinal bacterial isolates: glutamate-driven transcriptional and functional reprogramming in <i>Clostridium butyricum</i> and <i>Bacteroides thetaiotaomicron</i>. [PDF]

mSphere
Nematzadeh Somehsaraei N, Lemuel Hadi J, Khan Mirzaei M, Deng L, Gigl M, Dawid C, Schmitt-Kopplin P, Geydirici I, Schloter M, Gschwendtner S.   +9 more
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Amino Acid Deficiency Secondary to Continuous Venovenous Hemofiltration in Acute Decompensation of Organic Acidemias: An Anabolic Dead End? [PDF]

Crit Care Explor
Grosyeux C, Cammiciotto N, Jeannesson E, Feigerlova E, Villada V, Wicker C, Levy M, Schiff M, Imbard A, Coelho D, Feillet F, Wiedemann A.   +11 more
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Reversing Acute Cardiomyopathy With Coenzyme Q10 Supplementation in Cobalamin B Disease: A Case Report and Literature Review. [PDF]

JIMD Rep
Said D, Al Shamsi A.
europepmc   +1 more source

Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case report. [PDF]

BMC Neurol
Griffo M, Magri F, Furlan F, Bernardi E, Menni F, Tagliaferri F, Testa S, Ronchi D, Petrillo S, Piemonte F, Gagliardi D, Parisi M, Padelli S, Velardo D, Molitierno N, Corti S, Comi GP.   +16 more
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Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism. [PDF]

Hum Mol Genet
Hong S, Pardo J, Head PE, Ellis KT, Arnold ML, Achilly NP, Carrington B, Bishop K, Sood R, Kratz L, Sloan JL, Shchelochkov OA, Venditti CP.   +12 more
europepmc   +1 more source

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Treatment of a methylmalonyl-CoA mutase stopcodon mutation

Biochemical and Biophysical Research Communications, 2012
There are limited treatment options for the metabolic disorder methylmalonic aciduria. The disorder can be caused by nonsense mutations within the methylmalonyl-CoA mutase gene, resulting in the production of a truncated protein with little or no catalytic activity.
Nicole E, Buck, Leonie R, Wood, Natasha J, Hamilton, Michael J, Bennett, Heidi L, Peters   +4 more
exaly   +3 more sources

Assay of methylmalonyl CoA mutase with high-performance liquid chromatography

Clinica Chimica Acta, 1989
An assay for methylmalonyl CoA mutase activity is described. Succinyl CoA produced in this method is separated from the substrate, methylmalonyl CoA, by reverse-phase high-performance liquid chromatography and is quantified. This method is useful to differentiate mutase apoenzyme deficiency (mut0, mut-) and the defect in deoxyadenosylcobalamin ...
Kuniaki Narisawa, Kuniaki Narisawa
exaly   +3 more sources