Results 221 to 230 of about 38,522 (353)
Artificial intelligence‐powered microscopy: Transforming the landscape of parasitology
Abstract Microscopy and image analysis play a vital role in parasitology research; they are critical for identifying parasitic organisms and elucidating their complex life cycles. Despite major advancements in imaging and analysis, several challenges remain. These include the integration of interdisciplinary data; information derived from various model
Mariana De Niz+4 more
wiley +1 more source
Metabolomic Studies in Inborn Errors of Metabolism: Last Years and Future Perspectives. [PDF]
Cossu M+6 more
europepmc +1 more source
ABSTRACT Objective To investigate the status and influencing factors of caring readiness among parents of children undergoing liver transplantation transitioning from the intensive care unit, and to explore the associations between caring readiness and other variables. Design A cross‐sectional study.
Jingyun Wu+8 more
wiley +1 more source
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in the accumulation of keratan sulfate (KS) and chondroitin-6 ...
Luisa N. Pimentel-Vera+10 more
doaj
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China. [PDF]
Zhu J, Han L, Yang P, Feng Z, Xue S.
europepmc +1 more source
A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns. [PDF]
Onuki T+6 more
europepmc +1 more source
Investigating for Inborn Errors of Metabolism with Tandem Mass Spectrometry in Ankara Region, Turkey: A 2 Years Evaluation [PDF]
Leyla Tümer
openalex +1 more source
Gaucher disease, state of the art and perspectives
Abstract Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD.
Fabrice Camou, Marc G. Berger
wiley +1 more source
Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism. [PDF]
Safarikia S+21 more
europepmc +1 more source