Results 101 to 110 of about 13,373 (259)

Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia

Orphanet Journal of Rare Diseases
Background Methylmalonic acidemia (MMA) is a rare autosomal recessive disorder, that causes multisystem damage by accumulating toxic metabolites. These metabolites, particularly affecting nerve cells, contribute to suboptimal neurodevelopment in MMA ...
I.-Chih Ling, Dau-Ming Niu, Chia-Feng Yang, Cheng-Yu Lee, Sheng-Bin Liang, Yann-Jang Chen   +5 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

Ion suppression, reduced long-term robustness and leakage current of the spray voltage during the ionization of trichloroacetic acid; a case study with a methylmalonic acid assay

, 2023
Arjen M. Punt, Kim C. M. van der Elst, Alwin D. R. Huitema, Eef G.W.M. Lentjes   +3 more
openalex   +1 more source

North-south gradients in plasma concentrations of B-vitamins and other components of one-carbon metabolism in Western Europe: results from the European Prospective Investigation into Cancer and Nutrition (EPIC) Study. [PDF]

, 2013
Different lifestyle patterns across Europe may influence plasma concentrations of B-vitamins and one-carbon metabolites and their relation to chronic disease. Comparison of published data on one-carbon metabolites in Western European regions is difficult
Antonia Trichopoulou, Arve Ulvik, Bas Bueno-de-Mesquita, Bethany van Guelpen, Birgit Teucher, Elio Riboli, Emily Sonestedt, Eva Ardanaz, Florence Perquier, George Adarakis, Ihaka, Jörn Schneede, Kim Overvad, Klaus Meyer, Laure Dossus, Maria Luisa Redondo, Maria Plada, Maria Santucci de Magistris, Maria-Dolores Chirlaque, Marie Christine Boutron-Ruault, Martine M. Ros, Mattias Johansson, Noortje IJssennagger, Paolo Vineis, Paul Brennan, Per M. Ueland, Petra A. Wark, Petra H. M. Peeters, Raul Zamora-Ros, Rosario Tumino, Rothman, Roy M. Nilsen, Sabina Sieri, Schroll, Shu-Chun Chuang, Simone J. P. M. Eussen, Stein Emil Vollset, Steinar Hustad, Teresa Norat, Ulrika Ericson, Valentina Gallo, Verena A. Grote, Åse Fredriksen, Øivind Midttun   +43 more
core   +3 more sources

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

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

Investigating rare haematological disorders - A celebration of 10 years of the Sherlock Holmes symposia [PDF]

, 2016
The Sherlock Holmes symposia have been educating haematologists on the need for prompt recognition, diagnosis and treatment of rare haematological diseases for 10 years. These symposia, which are supported by an unrestricted educational grant from Sanofi
Bauduer, F, Bjerrum, OW, Cappellini, MD, Cassiman, D, Fraga, C, Hughes, D, Huijgens, P, Jäger, U, Machaczka, M, Marinakis, T, Massenkeil, G, Mehta, A, Rosenbaum, H, Vallejo, C, Van Droogenbroeck, J, Villarrubia, J, Wondergem, M   +16 more
core   +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  

Vitamin B12 measurements across neurodegenerative disorders. [PDF]

, 2020
Background:Vitamin B12 deficiency causes a number of neurological features including cognitive and psychiatric disturbances, gait instability, neuropathy, and autonomic dysfunction. Clinical recognition of B12 deficiency in neurodegenerative disorders is
Christine, Chadwick W, Hills, Nancy K, Luthra, Nijee S, Marcus, Ariane H   +3 more
core  

Chronic postnatal administration of methylmalonic acid provokes a decrease of myelin content and ganglioside N-acetylneuraminic acid concentration in cerebrum of young rats

Brazilian Journal of Medical and Biological Research, 2001
Levels of methylmalonic acid (MMA) comparable to those of human methylmalonic acidemia were achieved in blood (2-2.5 mmol/l) and brain (1.35 µmol/g) of rats by administering buffered MMA, pH 7.4, subcutaneously twice a day from the 5th to the 28th day of
A.M. Brusque, L. Rotta, L.F. Pettenuzzo, D. Junqueira, C.V. Schwarzbold, A.T. Wyse, C.M.D. Wannmacher, C.S. Dutra-Filho, M. Wajner   +8 more
doaj   +1 more source