Results 181 to 190 of about 145,125 (343)
Journal of Lipid ResearchThe gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels ...
Blai Morales-Romero +9 more
doaj +1 more source
Hearing Loss: From Basic to Clinical Science
Advanced Science, EarlyView.Abstract Hearing loss (HL) affects over 1.5 billion people globally, with genetic factors accounting for ≈50% of congenital cases. Therefore, HL has become a global health issue, driving extensive research from basic science to clinical applications. This Special Collection includes a total of 31 papers, among which 9 are review papers, 21 are research
Renjie Chai, Hai Huang, Jing Zou
wiley +1 more source
Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens [PDF]
Maria Faßhauer +7 more
openalex +1 more source
Advanced Science, EarlyView.Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling +17 more
wiley +1 more source
Research progress on renal calculus associate with inborn error of metabolism [PDF]
, 2023 Yuanming Song +2 more
openalex +1 more source
Advanced Science, EarlyView.We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions.
Wenlong Ren +6 more
wiley +1 more source
The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?
, 2018 Karina Colonetti +2 more
openalex +1 more source
Advanced Intelligent Discovery, EarlyView.This study introduces an affordable machine learning platform for simultaneous dengue and zika detection using fluorine‐doped tin oxide thin films modified with gold nanoparticles and DNA aptamers. Designed for low‐cost, hardware‐limited devices (< $25), the model achieves 95.3% accuracy and uses only 9.4 kB of RAM, demonstrating viability for resource‐
Marina Ribeiro Batistuti Sawazaki +3 more
wiley +1 more source
Targeted pharmacologic immunomodulation for inborn errors of immunity [PDF]
, 2020 Keith Sacco +2 more
openalex +1 more source