Results 41 to 50 of about 1,407,914 (310)

The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China

Orphanet Journal of Rare Diseases
Background The global incidence of Hyperphenylalaninemia (HPA) demonstrates significant geographical variations, exhibiting distinct regional and ethnic characteristics in both phenotypic manifestations and genotypic profiles.
Qiong Wang, Jiang Duan, Xiaolong Zhao, Zhiye Qi   +3 more
doaj   +1 more source

Integrating newborn genetic screening with traditional screening to improve newborn screening

The Journal of Maternal-Fetal & Neonatal Medicine
Abstract Background: Traditional newborn screening (NBS) for inborn errors of metabolism (IEM) and deafness has limitations due to the detection of fewer genetic disorders and variants, higher false-positive rates, and longer detection periods.
Shuai, Men, Zhiwei, Wang, Shuang, Liu, Xinxin, Tang, Shuaimei, Liu, Yali, Zhao, Yulin, Wu, Leilei, Wang   +7 more
openaire   +2 more sources

Engineering peptides into antibodies—opportunities and strategies for therapeutic innovation

FEBS Letters, EarlyView.
Peptides and antibodies occupy complementary therapeutic niches. Peptides recognize difficult targets in a compact format, while antibodies add specificity, long half‐life, and effector functions. This review examines strategies that merge both modalities—peptide grafting into loops, terminal and Fc fusions, and bioconjugation—highlighting how ...
Jinling Wang, Ruslana Romaniuk, Hristo L. Svilenov   +2 more
wiley   +1 more source

Other title: Financial Review

, 2010
application/pdf; "December 13-14, 2010."; Includes bibliographical references."A Newborn Screening Financial Review Team...met with selected staff members of the newborn screening program of the Kansas Department of Health and Environment (
National Newborn Screening & Genetics Resource Center (U.S.)
core   +1 more source

Liver organoids: modelling complexity in homeostasis and disease

FEBS Letters, EarlyView.
Studying liver in vitro has been challenging because simple 2D cell cultures fail to capture liver's cellular and architectural complexity. To bridge this gap, scientists increasingly use organoids, 3D liver models which better mimic liver composition and function. This review examines recent advances in liver organoid complexity and realism, discusses
Anna M. Dowbaj, Meritxell Huch
wiley   +1 more source

A Simple Method to Overcome the “Floating Disc Problem” Using the GALT-Assay on the PerkinElmer GSP—Remeasurement on a Stand Alone Plate Fluorimeter

International Journal of Neonatal Screening, 2016
The Perkin Elmer Genetic Screening Processor (GSP)™ is a fully automated system for the processing of immunoassays for thyroid stimulating hormone (TSH), 17-hydroxyprogesterone (17-OHP), immuno reactive trypsin (IRT), biotinidase, and total T4, as well ...
Ralph Fingerhut, Susanna H. M. Sluka
doaj   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project

International Journal of Neonatal Screening, 2023
Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene.
Farshad Niri, Jessie Nicholls, Kelly Baptista Wyatt, Christine Walker, Tiffany Price, Rhonda Kelln, Stacey Hume, Jillian Parboosingh, Margaret Lilley, Hanna Kolski, Ross Ridsdale, Andrew Muranyi, Jean K. Mah, Dennis E. Bulman   +13 more
doaj   +1 more source

Pilot programs in newborn screening

, 2012
The term "pilot study" has been used over the years to describe the evaluation of the many elements involved in deciding whether a proposed condition should be added to a newborn screening (NBS) panel, and until recently, was unilaterally used to ...
Sherwin, John, Pass, Kenneth, Lorey, Fred, Comeau, Anne Marie, Green, Nancy S.   +4 more
core   +1 more source

Going viral − Virus‐targeting nanobodies for research, diagnostics and therapy

FEBS Letters, EarlyView.
The increasing prevalence of viral diseases represents a major threat for global human health. Nanobodies, small binding fragments derived from camelid heavy‐chain antibodies, offer versatile tools for viral research, diagnostics, and antiviral therapy.
Domenic Ebert, Ulrich Rothbauer
wiley   +1 more source