Results 201 to 210 of about 379,097 (314)

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa   +2 more
wiley   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

Surveillance of nasal <i>Staphylococcus aureus</i> in patients undergoing breast surgery. [PDF]

open access: yesMicrobiol Spectr
Pérez-Granda MJ   +9 more
europepmc   +1 more source

Associations of Historic Residential Pesticide Proximity With Proinflammatory Cytokine Levels in a Patient Population With and Without Chronic Rhinosinusitis (CRS)

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Residential proximity to commercial pesticide application has been associated with increased odds of developing chronic rhinosinusitis (CRS) with in vitro studies demonstrating cytotoxic dose‐dependent effects on sinonasal epithelia.
Melodyanne Y. Cheng   +8 more
wiley   +1 more source

A Combined Aptamer Pulldown‐DNAzyme Cleavage Assay for Intact Methicillin Resistant Staphylococcus aureus Cells

open access: yesAngewandte Chemie, EarlyView.
Rapid fluorescence and lateral flow assays were developed for methicillin resistant Staphylococcus aureus (SA) by combining a DNA aptamer for selective isolation and an RNA‐cleaving DNAzyme for detection of MRSA. Abstract Accurate and convenient detection of methicillin resistant Staphylococcus aureus (MRSA) plays a vital role in determining ...
Monsur Ali   +4 more
wiley   +2 more sources

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