Results 81 to 90 of about 17,750 (254)

The digital epidemiology of phenylketonuria, aka folling’s disease: retrospective analysis and geographic mapping via google trends

open access: yesAsian Journal of Medical Sciences, 2018
Background: Phenylketonuria, commonly known as PKU, is an inherited disorder in which there is an abnormally elevated blood level of the amino acid phenylalanine leading to several pathologies affecting multiple organs including the central nervous ...
Ahmed Al-Imam
doaj   +1 more source

The ZmCOP1s–ZmCOL3 Module Enhances Late Flowering, Grain Yield and Grain Quality in Maize

open access: yesPlant Biotechnology Journal, EarlyView.
ABSTRACT Flowering time is a key determinant of yield and regional adaptation in crops and is largely controlled by light signalling. In this study, we identified two maize orthologs of Arabidopsis CONSTITUTIVE PHOTOMORPHOGENIC 1 (COP1), designated ZmCOP1a and ZmCOP1b, which activate light signalling and reduce plant height. Loss‐of‐function mutants of
Shuling Yang   +15 more
wiley   +1 more source

GC-MS METHODS FOR AMINO ACIDS DETERMINATION IN DIFFERENT BIOLOGICAL EXTRACTS

open access: yesStudia Universitatis Babes-Bolyai Chemia, 2016
Sensitive, precise and accurate analytical methods for free amino acids determination in biological samples were developed. Purification by ion exchange technique was followed by two steps derivatization method to obtain trifluoroacetyl ester ...
Monica CULEA   +4 more
doaj  

Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases [PDF]

open access: yes, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/102650/1/pd4274 ...
Berman, D. R.   +4 more
core   +1 more source

Mapping and Functional Characterization of Homologous Genes AhSUCA06 and AhSUCA16 Underlying Sucrose, Oil and Protein Contents in Peanut (Arachis hypogaea L.)

open access: yesPlant Biotechnology Journal, EarlyView.
ABSTRACT Cultivated peanut (Arachis hypogaea L.) is an important oilseed and cash crop, and seed sucrose content (SSC), seed oil content (SOC) and seed protein content (SPC) are key determinants of seed flavour, texture, and overall quality. Identifying quantitative trait loci (QTLs) and candidate genes associated with SSC, SOC and SPC is therefore of ...
Yuzhen Zheng   +20 more
wiley   +1 more source

Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center

open access: yesGenetics and Molecular Biology, 2019
Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell ...
Moacir Wajner   +6 more
doaj   +1 more source

Optimization of photobiomodulation therapy for spinal cord injury: A review

open access: yesPhotochemistry and Photobiology, EarlyView.
Photobiomodulation (PBM) therapy in the red and near‐infrared range can significantly modulate the secondary injury response and promote the reparative and regenerative potential of neural tissue after spinal cord injury (SCI). At present, due to the nature of delivery methods, the most effective dose and irradiance at the injury site to optimize ...
Isabella K. M. Drew   +3 more
wiley   +1 more source

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

open access: yesMolecular Genetics and Metabolism Reports, 2017
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments.
J. Pérez-López   +9 more
doaj   +1 more source

Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations [PDF]

open access: yes, 2012
Increasingly sophisticated measurement technologies have allowed the fields of metabolomics and genomics to identify, in parallel, risk factors of disease; predict drug metabolism; and study metabolic and genetic diversity in large human populations. Yet
Dumas, ME   +3 more
core   +1 more source

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