نتایج جستجو برای: biotinidase deficiency

تعداد نتایج: 137210  

2017
Jan Rouke Kuipers Anastasia Uminski Zoe Green David Hughes Tommaso Aglietti

Learning a new concept and corresponding word typically involves repeated exposure to the word in the same or a similar context until the link crystallizes in long term memory. Although electrophysiological indices of the result of learning are well documented, there is currently no measure of the process of conceptually-mediated learning itself. Here, we recorded event-related brain potentials...

2016
Barry Wolf

We report the first microdeletion (26 kb) of the biotinidase gene (BTD) that involves three of the four exons of the gene. This deletion further exemplifies the importance of performing microarray analysis or other methodologies for a deletion of the BTD gene when the enzymatic activity indicates lower activity than can be attributed to the mutations identified by DNA sequencing.

Journal: :Neuropsychologia 2009
Alice S N Kim Antonino Vallesi Terence W Picton Endel Tulving

The present study focused on the processes underlying cognitive association formation by investigating subsequent memory effects. Event-related potentials were recorded as participants studied pairs of words, presented one word at a time, for later recall. The findings showed that a frontal-positive late wave (LW), which occurred 1-1.6s after the presentation of the second word of a pair during...

Journal: :Journal of nutritional science and vitaminology 2016
Masahiro Yuasa Yuki Aoyama Ryoko Shimada Hiromi Sawamura Shuhei Ebara Munetaka Negoro Toru Fukui Toshiaki Watanabe

Biotin is a water-soluble vitamin that functions as a cofactor for biotin-dependent carboxylases. The biochemical and physiological roles of biotin in brain regions have not yet been investigated sufficiently in vivo. Thus, in order to clarify the function of biotin in the brain, we herein examined biotin contents, biotinylated protein expression (e.g. holocarboxylases), and biotin-related gene...

2017
Danika Nadeen Senanayake Eresha A. Jasinge Kirit Pindolia Jithangi Wanigasinghe Kristin Monaghan Sharon F. Suchy Sainan Wei Subashini Jaysena Barry Wolf

[This corrects the article DOI: 10.1016/j.ymgmr.2015.01.005.].

Journal: :The Tohoku journal of experimental medicine 1987
A Yamaguchi M Fukushi O Arai Y Mizushima Y Sato Y Shimizu K Tomidokoro N Takasugi

A simple and reliable method for quantification of biotinidase (EC.3.5.1.12) activity in dried blood spot was devised by a modification of the colorimetric screening test developed by Heard et al. (1984). The enzyme reaction and hemoglobin denaturation were carried out in a U-bottomed microplate. An aliquot of the reaction solution was transferred to a flat-bottomed microplate. After the coupli...

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