implementing whole genome sequencing (WGS) in clinical practice: advantages, challenges, and future perspectives
The integration of whole genome sequencing (WGS) into all aspects of modern medicine
represents the next step in the evolution of healthcare. Using this technology, scientists and …
represents the next step in the evolution of healthcare. Using this technology, scientists and …
Case report: Cerebrotendinous xanthomatosis treatment follow-up
K Ejsmont-Sowała, T Książek… - Frontiers in …, 2024 - frontiersin.org
Xanthomatosis is a genetic disease inherited in an autosomal recessive manner. The
specific phenotypic features are associated with patient's genetic profile. The result of the …
specific phenotypic features are associated with patient's genetic profile. The result of the …
The future of whole genome sequencing in pediatrics
P Brlek, D Primorac - Liječnički vjesnik, 2023 - hrcak.srce.hr
Sekvenciranje cijeloga genoma (eng. Whole genome sequencing–WGS) postaje sve
zastupljeniji genetički dijagnostički test u svakodnevnoj kliničkoj praksi. Inicijativa za …
zastupljeniji genetički dijagnostički test u svakodnevnoj kliničkoj praksi. Inicijativa za …
Pathophysiology and treatment of lipid abnormalities in cerebrotendinous xanthomatosis: an integrative review
RM Ribeiro, SC Vasconcelos, PLGSB Lima, EF Coelho… - Brain Sciences, 2023 - mdpi.com
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by
pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase. This …
pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase. This …
Budućnost cjelogenomskog sekvenciranja u pedijatriji
P Brlek, D Primorac - Liječnički vjesnik, 2023 - repository.medri.uniri.hr
Abstract (english) Whole Genome Sequencing (WGS) is becoming a genetic diagnostic test
of choice in everyday clinical practice. The Medical Genome Initiative (MGI) has recognized …
of choice in everyday clinical practice. The Medical Genome Initiative (MGI) has recognized …
[HTML][HTML] Cerebrotendinous xanthomatosis
T AS - Br Med J, 1972 - medlink.com
This article reviews the clinical, biochemical, and molecular genetic characteristics of
cerebrotendinous xanthomatosis. Cerebrotendinous xanthomatosis is an autosomal …
cerebrotendinous xanthomatosis. Cerebrotendinous xanthomatosis is an autosomal …