Results 91 to 100 of about 5,085,322 (244)

Polimorfismo de deleção de 19 pares de bases do gene dihidrofolato redutase (DHFR): risco materno para síndrome de Down e metabolismo do folato [PDF]

, 2010
CONTEXT AND OBJECTIVE: Polymorphisms in genes involved in folate metabolism may modulate the maternal risk of Down syndrome (DS). This study evaluated the influence of a 19-base pair (bp) deletion polymorphism in intron-1 of the dihydrofolate reductase ...
BISELLI, Joice Matos, CARVALHO, Valdemir Melechco, EBERLIN, Marcos Nogueira, GOLONI-BERTOLLO, Eny Maria, HADDAD, Renato, MENDES, Cristiani Cortez, PAVARINO-BERTELLI, Érika Cristina, RICCIO, Maria Francesca, VANNUCCHI, Hélio, ZAMPIERI, Bruna Lancia   +9 more
core   +1 more source

Transforming Growth Factor‐β‐Mediated Fibrotic Remodeling Drives Chronic Kidney Disease in Methylmalonic Aciduria and Propionic Aciduria—Identification of a New Therapeutic Target

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Propionic aciduria (PA‐uria) and methylmalonic aciduria (MMA‐uria) are caused by defects in propionate catabolism. While chronic kidney disease (CKD) is a well‐established complication in MMA‐uria, renal involvement in PA‐uria has only come into focus more recently, and the underlying mechanisms remain poorly understood.
Karina A. Zeyer, Stefan Tholen, Oliver Schilling, Leonie Gerling, Marina Morath, Stefan Kölker, Alexander Nyström, Ute Spiekerkoetter, Anke Schumann   +8 more
wiley   +1 more source

Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature

BMC Pediatrics
Background Methylmalonic acidemia is a rare autosomal recessive disorder of propionate catabolism characterized by the accumulation of propionic acid and methylmalonic acid caused by methylmalonyl-CoA mutase deficiency.
Fumiya Yamashita, Satoshi Akamine, Pin Fee Chong, Kenichi Maeda, Saori Kawakami, Sooyoung Lee, Masataka Ishimura, Kei Murayama, Yasunari Sakai, Ryutaro Kira   +9 more
doaj   +1 more source

Subacute Painful Axonal Polyneuropathy Associated with Foslevodopa/Foscarbidopa Subcutaneous Infusion in Advanced Parkinson's Disease

Movement Disorders, EarlyView.
Aukusti Valli, Filip Scheperjans
wiley   +1 more source

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

JIMD Reports, Volume 66, Issue 6, November 2025.
ABSTRACT 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
wiley   +1 more source

Vegan diet and nutritional status in infants, children and adolescents: A position paper based on a systematic search by the ESPGHAN Nutrition Committee

Journal of Pediatric Gastroenterology and Nutrition, Volume 81, Issue 5, Page 1318-1345, November 2025.
Abstract Vegan and other plant‐based diets are becoming increasingly popular in the paediatric age group. There is limited evidence in the current medical literature to determine whether a vegan diet is adequate for children, since the currently available society position papers are based on narrative reviews and expert opinion.
Elvira Verduci, Jutta Kӧglmeier, Nadja Haiden, Laura Kivelä, Barbara de Koning, Susan Hill, Veronica Luque, Sissel J. Moltu, Lorenzo Norsa, Miguel Saenz De Pipaon, Francesco Savino, Jiri Bronsky   +11 more
wiley   +1 more source

Causes of and diagnostic approach to methylmalonic acidurias [PDF]

, 2018
Summary: Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are known based on biochemical, enzymatic and genetic complementation analysis. The mut0 and mut− defects result from deficiency of MMCoA mutase apoenzyme which
Baumgartner, M., Fowler, B., Leonard, J.
core  

Nitrous Oxide Sourcing, Use and Harms: Insights From Australians Who Use Ecstasy/MDMA and Other Illicit Stimulants

Drug and Alcohol Review, Volume 44, Issue 7, Page 2113-2126, November 2025.
ABSTRACT Introduction Increasing harms associated with nitrous oxide use have raised concerns, but limited evidence exists to inform harm reduction. This study aimed to identify how nitrous oxide is sourced, the products/forms used, awareness of health risks, engagement in harm reduction and experience of neurological symptoms.
Jodie Grigg, Simon Lenton, Amy Peacock, Jessamine Soderstrom, Cate King, Natalie Thomas, Rachel Sutherland   +6 more
wiley   +1 more source

A Prospective Study on Serum Methylmalonic Acid and Homocysteine in Pregnant Women

Nutrients, 2016
This study aimed to investigate serum methylmalonic acid (MMA) and homocysteine levels and to assess their effects on pregnancy and neonatal outcomes.
R. Choi, S. Choi, Yaeji Lim, Y. Cho, Hye Jeong Kim, S. Kim, J. Chung, S. Oh, Soo-Youn Lee   +8 more
semanticscholar   +1 more source

Methylmalonic Acid and Homocysteine as Indicators of Vitamin B-12 Deficiency in Cancer

PLoS ONE, 2016
Background/Aims Normal or high serum vitamin B-12 levels can sometimes be seen in a B-12 deficient state, and can therefore be misleading. High levels of Methymalonic Acid (MMA) and Homocysteine (HC) have been identified as better indicators of B-12 ...
P. Vashi, Persis Edwin, B. Popiel, C. Lammersfeld, D. Gupta   +4 more
semanticscholar   +1 more source