Results 121 to 130 of about 5,012,650 (270)

Methylmalonic Acid Concentration in Serum Not Affected in Hepatic Disease

Clinical Chemistry, 1992
Abstract Accumulation of methylmalonic acid may provide an early clue to deficiency of cobalamin (vitamin B12) in tissue. Metabolic abnormalities involving precursors of methylmalonic acid are frequently observed in patients with hepatic diseases.
L Hagelskjaer, K Rasmussen
openaire   +3 more sources

بررسی سطح سرمی ويتامين B12، Folate و هموسيستئين در سالمندان سالم تهرانی [PDF]

, 2009
زمينه و هدف: از آنجائيکه جذب کوبالامين اغلب در سالمندان کاهش می‌يابد، کمبود ويتامين B12 يکی از مشکلات شايع در اين افراد است. تحقيقات اخير نشان می‌دهند که ميزان ناکافی ويتامين B12 ممکن است خطر ابتلا به بيماری‌های آترواسکلروتيک و نورودژنراتيو را افزايش دهد.
خدابنده‌لو, نیلوفر, فروغان, مهشید, قلعه‌بندی, میرفرهاد, نجومی, مرضیه, وکيلی, مسعود   +4 more
core  

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

Not So Rare: Errors of Metabolism during the Neonatal Period

, 2003
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ   +6 more
core   +1 more source

Questioning the pros and cons of metformin treatment in diabetic peripheral neuropathy

Journal of Diabetes Investigation, Volume 16, Issue 7, Page 1151-1153, July 2025.
Hiroki Mizukami
wiley   +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

An update on vitamin B12-related gene polymorphisms and B12 status. [PDF]

, 2018
Vitamin B12 is an essential micronutrient in humans needed for health maintenance. Deficiency of vitamin B12 has been linked to dietary, environmental and genetic factors. Evidence for the genetic basis of vitamin B12 status is poorly understood. However,
A Adaikalakoteswari, A Adaikalakoteswari, A Barnabe, A Hazra, A Hazra, A McCaddon, A Shiran, A Stanislawska-Sachadyn, A Tamura, A. Adaikalakoteswari, AA Seyerle, AB Hall, AC Alessio, AC Alessio, B Annibale, B Fowler, B Franke, B Schwahn, B Seetharam, BH Thuesen, BM Riedel, BS Sheu, C Chery, CJ Boushey, D Coelho, D Hu, DJ Smyth, E De Mattia, E Lahner, EL Kurnat-Thoma, EV Quadros, EV Quadros, F Cobayashi, F Keyfi, F Namour, F Pangilinan, F Zhao, FM Faraci, G Lauc, HJ Porck, HS Lee, I. A. Shatwaan, J Al-Tahan, J Johnston, J Johnston, J Kim, J Kumar, J Li, J Serpa, J Wang, J Wuerges, J. A. Lovegrove, JC Deme, JC Fyfe, JF Arendt, JF Arendt, JK Goodrich, JL Donato, JL Kutok, JP Lerner-Ellis, JW Zinck, K Kaptan, K Lechner, K. S. Vimaleswaran, KA Roecklein, KM von Castel-Dunwoody, KR Dholakia, L Strittmatter, L Strittmatter, L Zhao, M Aminoff, M Azevedo, M Drogemuller, M Soejima, M Tong, MG Garrod, MG van Oijen, N Grarup, N Kato, N Korotkova, N Sukumar, P Haggarty, P Haggarty, P Wacklin, P. Saravanan, R Castro, R Kozyraki, S Brustolin, S Henry, S Hustad, S Shahab-Ferdows, S. Surendran, SE Nilsson, SK Moestrup, SP Stabler, SP Yip, T Andrew, T Kudo, T Takahashi-Iñiguez, T Tanaka, TB Shows, V Fettelschoss, VS Tanwar, WS Bush, X Li, X Lin, Y Goto   +106 more
core   +2 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

Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations

Stem Cell Research, 2022
Methylmalonic acidemia(MMA) is an autosomal recessive hereditary disease caused by methylmalonyl-CoA mutase defect or its coenzyme cobalamin metabolism defect.
Jing Luan, Hui Zou, Yazhou Cui, Jing Wang, Zhenzhong Han, Genglin Zhang, Jinxiang Han   +6 more
doaj