Results 71 to 80 of about 3,232 (144)

NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias

Biomolecules
Although both localized nuclear magnetic resonance spectroscopy (MRS) and non-localized nuclear magnetic resonance spectroscopy (NMR) generate the same information, i.e., spectra generated by various groups from the structure of metabolites, they are ...
Calin Deleanu, Alina Nicolescu
doaj   +1 more source

Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA) [PDF]

, 2021
Irini Manoli, Alexandra Pass, Elizabeth A. Harrington, Jennifer L. Sloan, Jack Gagné, Samantha McCoy, Sarah Bell, Jacob D. Hattenbach, Brooks P. Leitner, Courtney J. Duckworth, Laura A. Fletcher, Thomas M. Cassimatis, Carolina I. Galarreta, Audrey Thurm, Joseph Snow, Carol Van Ryzin, Susan Ferry, Nicholas Ah Mew, Oleg A. Shchelochkov, Kong Y. Chen, Charles P. Venditti   +20 more
openalex   +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  

Methylmalonic Aciduria in Children: Clinical Recommendations

Педиатрическая фармакология, 2017
Methylmalonic acidemia (aciduria) is an inherited metabolic disturbance from the group of organic acidemias (acidurias). The article presents etiopathogenetic, epidemiological, diagnostic, and therapeutic aspects of the problem.
Alexander A. Baranov, Leyla S. Namasova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Elena A. Vishneva, Oksana V. Globa, Nataliya V. Zhurkova, Elena Yu. Zakharova, Natal’ya G. Zvonkova, Lyudmila M. Kuzenkova, Sergei I. Kutsev, Svetlana V. Mikhailova, Ekaterina A. Nikolaeva, Petr V. Novikov, Alexander A. Pushkov, Kirill V. Savostianov, Liliya R. Selimzyanova   +16 more
doaj   +1 more source

A case of methylmalonic acidemia and homocysteinemia cblX type with negative tandem mass spectrometry testing

, 2021
Yaping Shen, Zhenzhen Hu, Jianbin Yang, Rulai Yang, Xinwen Huang   +4 more
openalex   +2 more sources

A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China

, 2023
Haining Yang, Mian Li, Liang Zou, Hui Zou, Yan Zhao, Yazhou Cui, Jinxiang Han   +6 more
openalex   +2 more sources

Effect of 2-Methylcitrate on Citrate Metabolism: Implications for the Management of Patients with Propionic acidemia and Methylmalonic aciduria [PDF]

, 1975
Surinder Cheema‐Dhadli, Clifford C. Leznoff, Mitchell L. Halperin   +2 more
openalex   +1 more source

Impact on Isoleucine and Valine Supplementation When Decreasing Use of Medical Food in the Nutritional Management of Methylmalonic Acidemia [PDF]

, 2020
Laurie Bernstein, Casey Burns, Morgan Drumm, Sommer Gaughan, Melissa Sailer, Peter R. Baker   +5 more
openalex   +1 more source

Successful perioperative management of living-donor liver transplantation for a patient with severe methylmalonic acidemia: a case report [PDF]

, 2018
Akiko Hirotsu, Eriko Kusudo, Natsumi Mori, Yoshimitsu Miyai, Kengo Suzuki, Shuji Kawamoto, Kazuhiko Fukuda   +6 more
openalex   +1 more source

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency [PDF]

, 2015
Irini Manoli, Jennifer Myles, Jennifer L. Sloan, Nuria Carrillo, Éva Morava, Kevin A. Strauss, Holmes Morton, Charles P. Venditti   +7 more
openalex   +1 more source