Results 111 to 120 of about 13,373 (259)

Dietary depletion of vitamin B₁₂and the excretion of methylmalonic acid in the rat [PDF]

, 1969
D. L. Williams, G. H. Spray, G. E. Newman, John O’Brien   +3 more
openalex   +1 more source

Reported symptoms and clinical findings in relation to serum cobalamin, folate, methylmalonic acid and total homocysteine among elderly Swedes: a population‐based study [PDF]

, 2003
Karin Björkegren, Kurt Svärdsudd
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  

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

On the Origin of Western Diet Pathologies [PDF]

, 2010
The ratio of the two sulfur-containing amino acids, methionine (Met) and cysteine (Cys), may be a determining factor for which foods contribute to longevity and health. It is shown here that substantially more Met than Cys is consistently found in foods,
John Schloss
core   +1 more source

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)

JIMD Reports
Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of lipoic acid.
Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, Mara Doimo, Marianna Caterino, Christian Loro, Chiara Cazzorla, Margherita Ruoppolo, Leonardo Salviati, Alberto B. Burlina   +9 more
doaj   +1 more source

Methylmalonic Acid Test Utilization: Impact of a Laboratory-Based Utilization Program [PDF]

, 2014
Lauren Lippincott, Carley Woodruff, Salvador Sena, Jessica Dodge   +3 more
openalex   +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  

Metabolic toxicity and neurological dysfunction in methylmalonic acidemia: from mechanisms to therapeutics

Molecular Medicine
Methylmalonic acidemia (MMAemia) is an inborn error of organic acid metabolism characterized by the accumulation of toxic metabolites—including methylmalonic acid (MMA), 2-methylcitric acid (2-MCA), propionic acid (PA), homocysteine (Hcy), ammonia, and ...
Mengmeng Du, Miaomiao Li, Shengnan Wu, Xue Wu, Yongxing Chen, Changlian Zhu   +5 more
doaj   +1 more source

METHYLMALONIC ACID AS A MARKER FOR COBALAMIN DEFICIENCY: FACT OR FANTASY? ELUCIDATIONS FROM THE COBALAMIN‐DEFICIENT RAT [PDF]

, 1998
Scalabrino, Buccellato, Tredici
openalex   +1 more source