Results 71 to 80 of about 18,327 (286)
Iranian Journal of Medical Sciences, 2018 Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase (PAH) gene in western Iranian PKU patients (predominantly from ...
Reza Alibakhshi +3 more
doaj
A Framework to Establish Diet and Nutrition Competencies for Oral Health Care Education
Journal of Dental Education, EarlyView.ABSTRACT Objective: To prevent and manage oral disease, oral health care practitioners (OHCPs) must provide dietary counseling based on nutrition science. OHCPs are often ill‐equipped to provide such counseling due to fragmented and inadequate dietary education, which is typically attributed to limited curricular time or appropriately qualified faculty.
Teresa A. Marshall +2 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Evolution of the screening program for congenital hypothyroidism and phenylketonuria in Sergipe State from 1995 to 2003 [PDF]
, 2004 Avaliamos o tempo gasto nas diferentes etapas do Programa de Triagem para o Hipotireoidismo Congênito (HC) e Fenilcetonúria (PKU), sua cobertura e a freqüência em Sergipe, de 1998 a 2003, e comparamos com 1995.
Oliveira, Carla Raquel Pereira +3 more
core +1 more source
Phenylketonuria: a review [PDF]
Postgraduate Medical Journal, 1970 SummaryThe development of a practical screening procedure for phenylketonuria and the improvement in methods of chemical analysis have led to a realization that Folling’s (1934) disease of phenylketonuria is not a single entity.In this commentary, the current view on some aspects of phenylketonuria will be reviewed and the problems illustrated by ...
openaire +2 more sources
Small Science, EarlyView.Actinide nanoparticles are relevant to nuclear waste storage, environmental safety, advanced nuclear fuel engineering, and fundamental science. Herein, this review traces the early developments of the field and the recent progress enabled by the use of high‐energy‐resolution fluorescence‐detected X‐ray absorption near edge structure in synergy with ...
Lucia Amidani +3 more
wiley +1 more source
FENILCETONÚRIA: UMA REVISÃO DE LITERATURA [PDF]
, 2014 A Fenilcetonúria, causada pela deficiência da enzima fenilalanina hidroxilase e a causa mais frequente de retardo mental, desponta como a mais comum das doenças que envolvem erros congênitos.
Ascenso Rosa, Ruy Roberto Porto +2 more
core +1 more source
Frontiers in Psychiatry, 2019 Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in significant hyperphenylalaninemia, which leads to alterations in cerebral myelin ...
Killian Ashe +6 more
semanticscholar +1 more source
Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components
Small Methods, EarlyView.The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu +6 more
wiley +1 more source
SCIENTIFIC CONTRIBUTION TO TECHNOLOGICAL INNOVATION: ANALYSIS OF RESEARCH STRATEGIES IN REFERENCE DATABASES. [PDF]
, 2021 Tesis doctoral en período de exposición públicaDoctorado en Tecnología de Invernaderos e Ingeniería Industrial (RD99/11 ...
Cascajares Rupérez, Milagros
core