Results 111 to 120 of about 21,421 (302)
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin B6-Dependent Epilepsy [PDF]
, 2016 Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation.
Champion, Mike +19 more
core +1 more source
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, EarlyView.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
, 1973 This is the first in a series of newsletters designed to inform the Virginia medical community of recent advances in the area of genetics and metabolism and to provide information regarding a variety of services that are available at the Medical College ...
core +1 more source
Arteriovenous Blood Metabolomics: A Readout of Intra-Tissue Metabostasis. [PDF]
, 2015 The human circulatory system consists of arterial blood that delivers nutrients to tissues, and venous blood that removes the metabolic by-products. Although it is well established that arterial blood generally has higher concentrations of glucose and ...
Averell, Patricia M +12 more
core +2 more sources
Journal of Inherited Metabolic Disease, 2018 Since organic acid analysis in urine with gaschromatography-mass spectrometry (GC-MS) is a time-consuming technique, we developed a new liquid chromatography-quadrupole time-of-flight mass spectrometry (LC-QTOF/MS) method to replace the classical ...
semanticscholar +1 more source
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Hematologic emergencies are urgent health conditions which result in significant mortality and morbidity unless timely therapeutic measures are taken. Therapeutic success depends on their timely and accurate recognition by hematology laboratory services.
Ganna Shestakova +2 more
wiley +1 more source
New Phytologist, EarlyView.Summary Exogenously applied auxins are essential for establishing cell lines in tissue cultures and maintaining their proliferation. Cell lines may develop the ability to proliferate even in media lacking auxin, they may become auxin‐habituated. This study investigated the mechanisms underlying this process.
Pavel Jelínek +11 more
wiley +1 more source
Plant Biotechnology Journal, EarlyView.ABSTRACT Selfing often causes inbreeding depression, especially during seed and seedling stages. However, some selfed progeny show low inbreeding depression with enhanced vigour, differing from inbred counterparts. This study investigates the molecular mechanisms maintaining seed vigour during selfing in Cunninghamia lanceolata.
Houyin Deng +13 more
wiley +1 more source
Plant Biotechnology Journal, EarlyView.ABSTRACT Salinity stress can cause significant yield losses in crops because of its major impact on reproductive success. The complexity of salinity stress responses, particularly their tissue‐ and cell‐specific regulation, continues to challenge the translation of molecular insights into tangible crop yield improvements.
Jitendra K. Mohanty +8 more
wiley +1 more source
Inborn Errors of Metabolism in Children with Unexplained Developmental Delay in Misan, Iraq
Oman Medical Journal, 2019 Objectives: We sought to determine the prevalence of inborn errors of metabolism (IEM) in children with unexplained developmental delay and their types. Methods: We conducted a cross-sectional study in Misan, Iraq, over a period of one year.
Hassan A. Altimimi +2 more
doaj +1 more source