Results 81 to 90 of about 5,012,650 (270)

Metabolomic Profiles of Oral Rinse Samples to Distinguish Severe Periodontitis Patients From Non‐Periodontitis Controls

open access: yesJournal of Periodontal Research, EarlyView.
Metabolomic fingerprints analyzed from oral rinses are able to distinguish between severe periodontitis (stage III/IV) patients and non‐periodontitis controls. ABSTRACT Aims To explore the potential of metabolomic profiles of oral rinse samples to distinguish between patients with severe periodontitis (stage III/IV) and non‐periodontitis controls. This
Madeline X. F. Kosho   +4 more
wiley   +1 more source

Vitamin B12 in Cats: Nutrition, Metabolism, and Disease

open access: yesAnimals, 2023
Cobalamin is a water-soluble molecule that has an important role in cellular metabolism, especially in DNA synthesis, methylation, and mitochondrial metabolism. Cobalamin is bound by intrinsic factor (IF) and absorbed in the ileal tract.
Gerardo Siani   +3 more
doaj   +1 more source

How do we evaluate a marginally low B12 level? [PDF]

open access: yes, 2007
The best way to evaluate a low-normal B12 level is to check serum methylmalonic acid and homocysteine levels1 (strength of recommendation [SOR]: B, based on consistent level 2 or 3 studies).
Cravens, David D., Nashelsky, Joan
core  

An eye on long‐duration spaceflight: Controversies, countermeasures and challenges

open access: yesExperimental Physiology, EarlyView.
Abstract Space flight‐associated neuroocular syndrome (SANS) is a consequence of long‐duration space flight and is detected in two‐thirds of astronauts. In‐flight, this can cause a change in the refraction of the eyes, requiring graded hypermetropic ‘superfocus adjustable’ glasses, optic nerve head oedema and choroidal folds.
Vincent Wing Sum Ng   +1 more
wiley   +1 more source

Population Reference Values for Serum Methylmalonic Acid Concentrations and Its Relationship with Age, Sex, Race-Ethnicity, Supplement Use, Kidney Function and Serum Vitamin B12 in the Post-Folic Acid Fortification Period

open access: yesNutrients, 2018
Serum methylmalonic acid (MMA) is elevated in vitamin B-12 deficiency and in kidney dysfunction. Population reference values for serum MMA concentrations in post-folic acid fortification period are lacking.
V. Ganji, Mohammad R Kafai
semanticscholar   +1 more source

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron   +8 more
wiley   +1 more source

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

open access: yesBMC Medical Genetics, 2007
Background Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation.
Kaestner Klaus H   +8 more
doaj   +1 more source

Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene

open access: yesFrontiers in Neurology, 2022
Methylmalonic acidemia is a severe heterogeneous disorder of methylmalonate and cobalamin (Cbl; vitamin B12) metabolism with poor prognosis. Around 90% of reported patients with methylmalonic acidemia (MMA) are severe infantile early onset, while cases ...
Shengnan Wang   +4 more
doaj   +1 more source

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series

open access: yesClinical Case Reports, Volume 13, Issue 7, July 2025.
ABSTRACT Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of folate metabolism. A number of phenotypic findings have been identified to date, and we hereby wish to expand its phenotype based on our Irish experience of the condition.
Eimear Loftus   +7 more
wiley   +1 more source

A Technique for Measurement of Methylmalonic Acid in Cattle Urine

open access: yesJournal of Dairy Science, 1977
Methylmalonic acid was measured in cattle urine by decarboxylating it to propionate with sulfuric acid and heat and quantifying the propionate so formed by gas-liquid chromatography. Crystalline methylmalonic acid added to cow urine was recovered quantitatively.
J.M. Elliot, E.P. Barton
openaire   +3 more sources

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