Results 191 to 200 of about 42,467 (260)
Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran. [PDF]
Nasri M +4 more
europepmc +1 more source
The trajectories of energy, macro, and micronutrient intake from pregnancy to 8.5 months postpartum showed a stability in energy and protein, a decline in carbohydrates and fibre, and discrete increases in total fat, mono, poly, and saturated fat. In addition, there was a decline in the intake of most micronutrients.
Aline Yukari Kurihayashi +8 more
wiley +1 more source
A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback. [PDF]
Saudubray JM, Schiff M.
europepmc +1 more source
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
Untargeted Metabolomic Study for Urinary Characterization of Adult Patients with Phenylketonuria. [PDF]
Gonzalez-Rodriguez A +17 more
europepmc +1 more source
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
Endocrine Disorders in Patients With Inborn Errors of Immunity. [PDF]
Noh ES +16 more
europepmc +1 more source
ABSTRACT DREB/ERF transcription factors play pivotal roles in plant development; however, their structural characteristics, DNA‐binding preferences, and functional roles in highly heterozygous woody plants remain insufficiently understood. Using lychee (Litchi chinensis) as a model, we identified 95 DREB/ERF genes subdivided into ten phylogenetic ...
Fengqi Wu +9 more
wiley +1 more source
Is it time for the A/I (allergist/immunologist) to embrace AI (artificial intelligence) in diagnosis and treatment of the inborn errors of immunity? [PDF]
Bellanti JA.
europepmc +1 more source
ABSTRACT Heat stress (HS) has become an increasing threat to wheat productivity under global warming. However, the genetic loci for thermotolerance and the underlying molecular mechanisms remain largely unknown. In this study, genetic mapping identified a thermotolerance locus, QMpe.cau‐2D, encoding fatty acid desaturase 8 (FAD8), with the transposable
Hongjian Yu +15 more
wiley +1 more source

