Results 141 to 150 of about 53,176 (324)

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

open access: yesBritish Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen   +5 more
wiley   +1 more source

Malaltia Ateroscleròtica Coronària silent en pacients amb Hipercolesterolèmia Familiar Heterozigota [PDF]

open access: yes, 2012
L'Hipercolesterolèmia Familiar Heterozigota (HFHe) és una malaltia monogènica que predisposa a una major morbimortalitat cardiovascular. Aquest estudi prospectiu de casos i controls pretén avaluar la prevalença de Malaltia Arteroscleròtica Coronaria (MAC)
Universitat Autònoma de Barcelona. Departament de Medicina   +2 more
core  

Is Liver Transplant Curative in Homozygous Familial Hypercholesterolemia? A Review of Nine Global Cases [PDF]

open access: hybrid, 2022
Mohammed Al Dubayee   +4 more
openalex   +1 more source

Cardiometabolic Risk in First Degree Relatives of Women With Polycystic Ovary Syndrome (PCOS)

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Objective Polycystic ovary syndrome (PCOS) is a common multisystem disorder with reproductive, cardiometabolic and psychological implications. Genetic factors play a role in the pathogenesis of PCOS. We sought to investigate the cardiometabolic health of first degree relatives (FDR) of women with PCOS.
Su Jen Chua   +8 more
wiley   +1 more source

Constitutional and environmental factors related to serum lipid and lipoprotein levels [PDF]

open access: yes
Serum lipoproteins and lipids in 657 human males correlated to multiple constitutional and environmental ...
Graybiel, A.   +4 more
core   +1 more source

Older Adults' Self‐Care and Family Caregiver Contribution in Multiple Chronic Conditions: A Dyadic Qualitative Study

open access: yesJournal of Advanced Nursing, EarlyView.
ABSTRACT Aims To explore how older adult‐family caregiver dyads jointly manage multiple chronic conditions. Specifically, it investigates how dyads (i) prioritise chronic diseases, (ii) make and negotiate decisions related to self‐care and (iii) define and distribute self‐care tasks and caregiver contributions.
Giulia Andrea Baldan   +6 more
wiley   +1 more source

Family hypercholesterolemia due to LDLR gene in Vietnamese children: characteristics of phenotype and genotype

open access: yesMolecular Genetics and Metabolism Reports
Background: Familial hypercholesterolemia (FH) results in elevated LDL cholesterol, contributing to atherosclerosis and early-onset cardiovascular disease.
Mai Thi Thanh Do   +5 more
doaj   +1 more source

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