نتایج جستجو برای: pyridoxine dependent epilepsy
تعداد نتایج: 745226 فیلتر نتایج به سال:
BACKGROUND AND OBJECTIVE Vitamin B(6) plays a pivotal role in brain development and functioning. Differences in vitamin B(6) homeostasis between preterm and term newborn infants have been reported. The authors sought to investigate whether B(6) vitamers in cerebrospinal fluid (CSF) of preterm and term newborn infants are different. METHODS B(6) vitamer concentrations were determined in 69 CSF...
Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding α-aminoadipic-semialdehyde-dehydrogenase enzyme in the lysine catabolic pathway resulting in an accumulation of α-aminoadipic-acid-semialdehyde (α-AASA). We present the one-year treatment outcome of a patient on a lysine-restricted diet. Serial cerebral-spinal-fluid (CSF) α-AASA and CSF pipecol...
Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine-dependent epilepsy. In other IEMs, seizures may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, ataxia, and upper motor signs in ...
A 4-day-old former 38-week term neonate was transferred to the NICU from a community emergency center (EC) due to concern for seizure activity. She was born at term via emergent Cesarean section for chorioamnionitis. The mother was group B streptococcus (GBS) positive and treated with clindamycin less than 4 hours before delivery. A blood culture was obtained which was negative. The baby did no...
Selection was used to create select and control lines within 4 purebred and 3 composite cattle populations. Both lines were selected for similar direct yearling weight and maternal weaning weight EBV. Select lines were selected for lower 2-yr-old heifer calving difficulty score EBV and control lines were selected for average birth weight EBV. Select (n = 6,926) and control (n = 2,043) line calv...
A 2-yr study was conducted to determine the effect of EPD for marbling on marbling score, palatability traits, and carcass fatness in beef. Steer (n = 122) and heifer (n = 123) carcasses were obtained by mating Angus bulls having a high ( > .4) or low ( < -.16) EPD for marbling to MARC II cows (1/4 Angus, 1/4 Hereford, 1/4 Simmental, and 1/4 Gelbvieh). Carcass traits, composition of primals, qu...
Recent improvement in technologies for measuring individual feed intake has made possible the collection of data suitable for breed-wide genetic evaluation. The goals of this research were to estimate genetic parameters for components of feed efficiency and develop a prototype system for conducting a genetic evaluation of Angus cattle for feed intake. Weaning weight (WWT), postweaning BW gain (...
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