[HTML][HTML] Half a century of amyloids: past, present and future
Amyloid diseases are global epidemics with profound health, social and economic
implications and yet remain without a cure. This dire situation calls for research into the …
implications and yet remain without a cure. This dire situation calls for research into the …
[HTML][HTML] Dried blood spots for global health diagnostics and surveillance: opportunities and challenges
MD Lim - The American journal of tropical medicine and hygiene, 2018 - ncbi.nlm.nih.gov
There is increasing interest in using dried blood spot (DBS) cards to extend the reach of
global health and disease surveillance programs to hard-to-reach populations …
global health and disease surveillance programs to hard-to-reach populations …
The role of exome sequencing in newborn screening for inborn errors of metabolism
AN Adhikari, RC Gallagher, Y Wang, RJ Currier… - Nature medicine, 2020 - nature.com
Public health newborn screening (NBS) programs provide population-scale ascertainment
of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry …
of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry …
Guideline for the evaluation of cholestatic jaundice in infants: joint recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and …
R Fawaz, U Baumann, U Ekong… - Journal of pediatric …, 2017 - journals.lww.com
Cholestatic jaundice in infancy affects approximately 1 in every 2500 term infants and is
infrequently recognized by primary providers in the setting of physiologic jaundice …
infrequently recognized by primary providers in the setting of physiologic jaundice …
The path to tuberculosis elimination: a renewed vision
GB Migliori, D Dowdy, JT Denholm… - European …, 2023 - Eur Respiratory Soc
Tuberculosis (TB) elimination and pre-elimination, with thresholds of 1 and 10 incident
cases per million population, respectively, were considered achievable for low TB incidence …
cases per million population, respectively, were considered achievable for low TB incidence …
[HTML][HTML] The use of whole genome and exome sequencing for newborn screening: challenges and opportunities for population health
AC Woerner, RC Gallagher, J Vockley… - Frontiers in …, 2021 - frontiersin.org
Newborn screening (NBS) is a population-based program with a goal of reducing the
burden of disease for conditions with significant clinical impact on neonates. Screening tests …
burden of disease for conditions with significant clinical impact on neonates. Screening tests …
[HTML][HTML] Dried blood spot in laboratory: directions and prospects
K Malsagova, A Kopylov, A Stepanov, T Butkova… - Diagnostics, 2020 - mdpi.com
Over the past few years, dried blood spot (DBS) technology has become a convenient tool in
both qualitative and quantitative biological analysis. DBS technology consists of a …
both qualitative and quantitative biological analysis. DBS technology consists of a …
[HTML][HTML] Genomic newborn screening: public health policy considerations and recommendations
Background The use of genome-wide (whole genome or exome) sequencing for population-
based newborn screening presents an opportunity to detect and treat or prevent many more …
based newborn screening presents an opportunity to detect and treat or prevent many more …
[HTML][HTML] Challenges in transition from childhood to adulthood care in rare metabolic diseases: results from the first multi-center European survey
KM Stepien, B Kieć-Wilk, C Lampe, T Tangeraas… - Frontiers in …, 2021 - frontiersin.org
Inherited Metabolic Diseases (IMDs) are rare diseases caused by genetic defects in
biochemical pathways. Earlier diagnosis and advances in treatment have improved the life …
biochemical pathways. Earlier diagnosis and advances in treatment have improved the life …
[HTML][HTML] Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in Suzhou, China: disease spectrum, prevalence, genetic …
T Wang, J Ma, Q Zhang, A Gao, QI Wang, H Li… - Frontiers in …, 2019 - frontiersin.org
Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass
spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify …
spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify …