Results 41 to 50 of about 1,727,355 (121)

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, Volume 46, Issue 5-6, Page 623-635, May 2026.
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

Importancia del diagnóstico precoz de fenilcetonuria en la mujer y del control de los niveles de fenilalanina en la gestación Importance of early diagnosis of phenylketonuria in women and control of phenylalanine levels during pregnancy

open access: yesNutrición Hospitalaria, 2012
La Fenilalanina Hidroxilasa (PAH) hidroxila a nivel hepático la fenilalanina proveniente de la dieta. Los fetos dependen para la hidroxilación de fenilalanina de la función materna, ya que por inmadurez fetal esta función no se adquiere hasta la semana ...
F. Arrieta Blanco   +3 more
doaj  

Engineering Lipid Nanoparticles for Precision RNA Delivery: Design Principles, Targeting Strategies, and Clinical Prospects

open access: yesCancer Nexus, Volume 2, Issue 2, April 2026.
ABSTRACT Lipid nanoparticles (LNPs) represent the most clinically advanced platform for RNA delivery and have enabled major breakthroughs in vaccines and gene therapies. However, their broader application is still limited by inefficient extrahepatic delivery, immunogenicity, and insufficient control over tissue‐ and cell‐specific targeting. This review
Yu Han   +5 more
wiley   +1 more source

Reproductive effects of maternal metabolic disorders: implications for pediatrics and obstetrics

open access: yesThe Turkish Journal of Pediatrics, 1996
The reproductive effects of metabolic disorders in women can be divided into four categories. The first of these is infertility. Galactosemia with its complication of ovarian failure is the disorder in this category.
H L Levy
doaj  

Adult issues in phenylketonuria. [PDF]

open access: yes, 2009
Contains fulltext : 79889.pdf (Publisher’s version ) (Open Access)Phenylketonuria (PKU) is a classical example of an inherited metabolic disease, in which mental retardation can be prevented successfully by using a diet.
Heijer, M. den   +2 more
core  

Nexus of Whey Proteins, Gut Dysbiosis, and Colonic Health

open access: yesFood Science &Nutrition, Volume 14, Issue 2, February 2026.
Whey proteins possess antimicrobial and prebiotic properties that modulate gut microbiota by promoting beneficial bacteria like Bifidobacterium while suppressing pathogens. This modulation enhances short‐chain fatty acid production and strengthens intestinal barrier integrity, potentially alleviating dysbiosis‐related conditions such as colitis and ...
Tolulope Joshua Ashaolu   +4 more
wiley   +1 more source

The Creation of a Weight of Evidence Scoring Database for Risk Factors for Adverse Impacts to Birth Outcomes Using Expert Elicitation

open access: yesBirth Defects Research, Volume 118, Issue 1, January 2026.
ABSTRACT Background Adverse birth outcomes are important public health measures and account for a substantial public health burden. There is considerable diversity of these health endpoints, as well as in the many factors suspected or recognized to increase their risk.
Paul J. Villeneuve   +18 more
wiley   +1 more source

Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management

open access: yes, 2019
Untreated phenylketonuria (PKU) in pregnancy causes a severe embryopathy called maternal PKU syndrome. Here, we aimed to assess management issues and pregnancy outcomes in the first published series of PKU pregnancies from the developing world. Data were
YILDIZ, YILMAZ, SİVRİ, HATİCE SERAP
core   +1 more source

Effect of Family Income, Education, Occupation, and Birth Weight on Child Growth at Aisyiyah III Kindergarten, in Kadipiro, Indonesia [PDF]

open access: yes, 2016
Background: Children under five years old are the future generation. Stages of child development during the golden period require stimulation to increase the potential of healthy children.
Murti, Bhisma   +2 more
core   +1 more source

Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Current carrier screening primarily focuses on high detection rates and broad testing ranges. We approach the issue from the perspective of a community physician, evaluating the suitability of carrier screening based on factors such as cost, ease of report interpretation, and compliance issues.
Zhihui Wang   +6 more
wiley   +1 more source

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