Results 101 to 110 of about 7,812 (191)
NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias
BiomoleculesAlthough 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
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Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia
, 2011 Methylmalonic acidemia caused by all L-Methylinalonyl-CoA mutase deficiency. The mut(0) type is associated with significant mortality and morbidity, but tandem mass spectrometry has made early detection possible.
LEE, NI-CHUNG;CHIEN, YIN-HSIU;PENG, STEVEN SHINN- FORNG;HUANG, AI-CHU;LIU, TZE-TZE;WU, SING-HUEI;CHEN, LI-CHU;HSU, LI-WEN;TSENG, SHIH-CHUAN;HWU, WUH-LIANG +1 more
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Subacute bilateral visual loss in methylmalonic acidemia
, 2011 A 23-year-old woman known to have methylmalonic acidemia (MMA) since birth suffered bilateral visual loss within 5 days. Multiple sclerosis, Leber hereditary optic neuropathy, vasculitis, infections (in particular treponema), and vitamin deficiency were ...
Donath, Marc Y. +17 more
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Gene identification for the cblD defect of vitamin B12 metabolism [PDF]
, 2008 Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Rosenblatt, D S +6 more
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Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure
, 2001 Methylmalonic acidemia (MMA) is an inborn error of organic acid metabolism that occurs in infancy with hypotonia, vomiting, dehydration, lethargy and failure to thrive and is biochemically characterized by metabolic ketoacidosis, hyperammonemia and ...
P. Scoppi +6 more
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Methylmalonic acidemia with neonatal sepsis
, 2004 Toplumda nadir görülen doğumsal metabolik hastalıkların yoğun bakım gerektiren hastalarda görülme sıklığı daha fazladır. Çoğu otozomal resesif geçişli olan metabolik hastalıklar akraba evliliği ya da ailede benzer hastalık öyküsü olanlarda mutlaka akla ...
Hasan Çetin +7 more
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JIMD ReportsMethylmalonic acidemia (MMA) is a rare metabolic disorder with various subtypes, including Cobalamin B (cblB) disease. While cardiac complications are well‐documented in propionic acidemia, their occurrence in MMA is less understood. Here, we report a 12‐
Dalia Said, Aisha Al Shamsi
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BMC PediatricsObjective This study investigated the clinical, imaging, and electroencephalogram (EEG) characteristics of methylmalonic acidemia (MMA) with nervous system damage as the primary manifestation.
Yujun Yuan +5 more
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A novel method of multi-omics analysis in methylmalonic acidemia
Methylmalonic acidemia (MMA) is a rare genetic metabolic disorder characterized by elevated levels of MMA in the body [1]. In recent years, with the rapid advancement of multi-omics technologies, an increasing number of studies have employed multi-omics ...
Lyu, J., Chen, X., Sysa, A.G.
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