Results 121 to 130 of about 5,085,322 (244)

Assay of methylmalonic acid in the serum of patients with cobalamin deficiency using capillary gas chromatography-mass spectrometry. [PDF]

, 1986
S P Stabler, P D Marcell, Elaine R. Podell, Robert H. Allen, J Lindenbaum   +4 more
openalex   +1 more source

Methylmalonic Acid and Homocysteine in Plasma as Indicators of Functional Cobalamin Deficiency in Infants on Macrobiotic Diets [PDF]

, 1994
Jørn Schneede, Pieter C. Dagnelie, W.A. van Staveren, Dan J. Stein, Helga Refsum, Per Magne Ueland   +5 more
openalex   +1 more source

Animal models of methylmalonic acidemia: insights and challenges

Orphanet Journal of Rare Diseases
Methylmalonic acidemia (MMA) is a rare genetic disorder caused by disruptions in the metabolism of methylmalonic acid, resulting in severe neurological and systemic complications.
Shan Shan, Min Liu, Yue Ma, Meng Sun, Yue Wang, Hui Zou   +5 more
doaj   +1 more source

Rapid 2nd-Tier Test for Measurement of 3-OH-Propionic and Methylmalonic Acids on Dried Blood Spots: Reducing the False-Positive Rate for Propionylcarnitine during Expanded Newborn Screening by Liquid Chromatography–Tandem Mass Spectrometry [PDF]

, 2007
Giancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, Marzia Innocenti, Maria Alice Donati, Enrico Zammarchi   +5 more
openalex   +1 more source

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

Journal 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.

Clinica chimica acta; international journal of clinical chemistry, 2021
Abildgaard Anders, Knudsen Cindy Soendersoe, Hoejskov Carsten Schriver, Greibe Eva, Parkner Tina   +4 more
semanticscholar   +1 more source

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism [PDF]

, 2017
The cblD defect of intracellular vitamin B12 metabolism can lead to isolated methylmalonic aciduria (cblD-MMA) or homocystinuria (cblD-HC), or combined methylmalonic aciduria and homocystinuria (cblD-MMA/HC).
Baumgartner, Matthias R., Burda, Patricie, Coelho, David, Fowler, Brian, Stucki, Martin, Suormala, Terttu   +5 more
core  

Inhibition of Bone Marrow Stem Cell Growth In Vitro by Methylmalonic Acid: a Mechanism for Pancytopenia in a Patient with Methylmalonic Acidemia [PDF]

, 1981
Susumu Inoue, Ingeborg Krieger, Ashok P. Sarnaik, Yaddanapudi Ravindranath, Michael Fracassa, Mark J. Ottenbreit   +5 more
openalex   +1 more source

Associations of serum vitamin B12 and its biomarkers with musculoskeletal health in middle-aged and older adults

Frontiers in Endocrinology
IntroductionThe effects of vitamin B12 metabolism on musculoskeletal health and the exact mechanism have not been fully determined. Our study aimed to assess the association of vitamin B12 and its biomarkers with musculoskeletal health in middle-aged and
Jiao Zhao, Qi Lu, Xianfeng Zhang
doaj   +1 more source

Déficit subclinique en vitamine B12 chez les nouveau-nés [PDF]

, 2014
Background: In the past years, we diagnosed subclinical vitamin B12 deficiency in infants with hypotonia, motor delay and/or infant malaise. These infants had elevated methylmalonic acid (MMA) in plasma and urine and plasma B12 in the low normal range ...
WILD, M.
core