Associated Papers
Refractory Rickets: Evaluation and Management.
Krishnamurthy S
Indian Journal of Pediatrics, 2026
Distinct and potent vitamin D hydroxylation activity acquired by the CYP3A4 I301T single amino acid substitution causes type 3 rickets.
Nakaya N et al.
The Febs Journal, 2025
Genetic Variants Influencing Individual Vitamin D Status.
Karrow NA et al.
Nutrients, 2025
Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences.
Prost R et al.
International Journal of Molecular Sciences, 2025
Hereditary disorders of vitamin-D metabolism and its receptor.
Lainis V et al.
Hormones (athens, Greece), 2025
In-silico screening and analysis of missense SNPs in human CYP3A4/5 affecting drug-enzyme interactions of FDA-approved COVID-19 antiviral drugs.
Abdelazim AA et al.
Scientific Reports, 2025
Unveiling the heritability of selected unexplored pharmacogenetic markers in the Saudi population.
Alshabeeb MA et al.
Frontiers in Pharmacology, 2025
CYP3A4 Mutation Causes Vitamin D-Dependent Rickets Type 3: A Case Report in Saudi Arabia.
Al-Ashwal A et al.
Cureus, 2023
Vitamin D-Dependent Rickets Type 3: A Case Report and Systematic Review.
Mantoanelli L et al.
Calcified Tissue International, 2023
Genetic Forms of Calciopenic Rickets.
Donmez AS et al.
The Eurasian Journal of Medicine, 2022
Interplay of Vitamin D and CYP3A4 Polymorphisms in Endocrine Disorders and Cancer.
Kasarla SS et al.
Endocrinology and Metabolism (seoul, Korea), 2022
CYP3A4 mutation causes vitamin D-dependent rickets type 3.
Roizen JD et al.
The Journal of Clinical Investigation, 2018
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