Results 21 to 30 of about 5,085,322 (244)

Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment. [PDF]

open access: goldInt J Neonatal Screen
Nardecchia F   +8 more
europepmc   +3 more sources

Plasma methylmalonic acid predicts risk of acute myocardial infarction and mortality in patients with coronary heart disease: A prospective 2‐cohort study

open access: yesJournal of Internal Medicine, 2023
Elevated plasma methylmalonic acid (MMA) is reported in patients with established coronary heart disease (CHD) and is considered a marker of vitamin B12 deficiency. Moreover, MMA‐dependent reactions have been linked to alterations in mitochondrial energy
I. Dhar   +14 more
semanticscholar   +1 more source

Methylmalonic Acid and Vitamin B12 in Patients with Heart Failure.

open access: diamondHellenic Journal of Cardiology, 2019
K. Polytarchou   +8 more
semanticscholar   +2 more sources

Case Report: A Case of Late-Onset Combined Methylmalonic Acidemia and Hyperhomocysteinemia Induced by a Vegetarian Diet

open access: yesFrontiers in Pediatrics, 2022
Methylmalonic acidemia is a rare autosomal recessive metabolic disease. However, because of the atypical clinical symptoms, the type of late-onset methylmalonic academia is often misdiagnosed.
Bei Xu   +5 more
doaj   +1 more source

Prenatal Diagnosis of Two Common Inborn Errors of Metabolism by Genetic and Mass Spectrometric Analysis of Amniotic Fluid

open access: yesFrontiers in Pediatrics, 2022
Methylmalonic acidaemia (MMA) and ornithine transcarbamylase deficiency (OTCD) are both intoxication-type inborn errors of metabolism (IEM). Presently, genetic testing is the primary method for prenatally diagnosing these diseases.
Congcong Shi   +5 more
doaj   +1 more source

External quality assessment of urinary methylmalonic acid quantification - results of a pilot study [PDF]

open access: yes, 2007
This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 3.0) license, which permits others to distribute, remix, adapt, build upon this work noncommercially, and license their derivative ...
Klee GG   +5 more
core   +5 more sources

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