Results 81 to 90 of about 2,693,074 (200)

Methylmalonyl-CoA Mutase Induction by Cerebral Ischemia and Neurotoxicity of the Mitochondrial Toxin Methylmalonic Acid

, 1996
Differential screening of gerbil brain hippocampal cDNA libraries was used to search for genes expressed in ischemic, but not normal, brain. The methylmalonyl-CoA mutase (MCM) cDNA was highly expressed after ischemia and showed a 95% similarity to mouse ...
Purnima Narasimhan, Robert Sklar, Matthew Murrell, Raymond A. Swanson, Frank R. Sharp   +4 more
core   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Evaluation of peripheral and autonomic nervous systems dysfunctions in patients with Parkinson’s disease

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Peripheral neuropathy (PN) is increasingly recognized in Parkinson’s disease (PD). This study aimed to evaluate peripheral nerve and autonomic nervous system dysfunction in PD.
Osama A. Ragab, Ehab S. Mohamed, Mahmoud H. Nassar   +2 more
doaj   +1 more source

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report

International Journal of Neonatal Screening
Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA.
Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot   +11 more
doaj   +1 more source

Methylmalonic Acidemia with Renal Involvement: A Case Report and Review of Literature

Saudi Journal of Kidney Diseases and Transplantation, 2001
Methylmalonic acidemia (MMA) is an inborn error of metabolism that results in the accumulation in blood, and increased excretion in the urine of, methylmalonic acid.
Srinivas K, Want Mohammed, Freigoun Osama, Balakrishna N   +3 more
doaj  

The Value of Liver Transplantation for Methylmalonic Acidemia

Frontiers in Pediatrics, 2019
Introduction: MMA is a rare autosomal recessive disorder with the manifestation of recurrent and severe episodes of acute metabolic decompensation or a variety of long-term complications that require timely treatment. While conventional long-term medical
Yi-Zhou Jiang, Yi-Zhou Jiang, Li-Ying Sun, Li-Ying Sun, Li-Ying Sun   +4 more
doaj   +1 more source

Variables assessed in the multivariable linear regression models measuring predictors for plasma folate, cobalamin, homocysteine, or methylmalonic acid in 823 Nepalese children 6 to 35 months of age.

, 2014
Variables assessed in the multivariable linear regression models measuring predictors for plasma folate, cobalamin, homocysteine, or methylmalonic acid in 823 Nepalese children 6 to 35 months of age.
Ram K. Chandyo (323672), Halvor Sommerfelt (214581), Helga Refsum (116099), Manjeswori Ulak (323671), Pushpa R. Sharma (323670), Ramesh K. Adhikari (323673), Tor A. Strand (323669)   +6 more
core   +1 more source

A comparison of serum vitamin B12 and serum methylmalonic acid as diagnostic measures of cobalt status in cattle.

, 1990
In two trials an assessment was made of serum methylmalonic acid as a diagnostic criterion of cobalt status in housed cattle. Despite the small number of animals used the method showed some promise, and normal concentrations are tentatively suggested as ...
MacPherson, A., Paterson, J. E.
core   +3 more sources

Antioxidant System Disturbances, Bioenergetic Disruption, and Glial Reactivity Induced by Methylmalonic Acid in the Developing Rat Brain

Neuroglia
Background: Elevated levels of methylmalonic acid (MMA) are observed in the bodily fluids and tissues of patients with methylmalonic aciduria, a metabolic disorder characterized by manifestations such as vomiting, lethargy, muscle weakness, seizures, and
Cristiano Antonio Dalpizolo, Josyane de Andrade Silveira, Manuela Bianchin Marcuzzo, Vitor Gayger-Dias, Vanessa-Fernanda Da Silva, Camila Vieira Pinheiro, Bruno Pereira dos Santos, Tiago Franco de Oliveira, Carlos-Alberto Gonçalves, Guilhian Leipnitz   +9 more
doaj   +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