Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.3181
Abstract: Vitamin D requires a two‐step activation by hydroxylation: The first step is catalyzed by hepatic 25‐hydroxylase (CYP2R1, 11p15.2) and the second one is catalyzed by renal 1α‐hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form… read more here.
Keywords: hydroxylase; vitamin dependent; condition; deficiency ... See more keywords
Severe Vitamin K‐Dependent Coagulopathy Associated With Contaminated Synthetic Cannabinoid Exposure in Illinois: 389
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Emergency Medicine"
DOI: 10.1016/j.annemergmed.2018.08.394
Abstract: Study Objectives: In Illinois during the spring of 2018, a large public outbreak of vitamin-K dependent coagulopathies occurred secondary to inhalation of contaminated synthetic cannabinoids. The hematologic effects were secondary to brodifacoum (a rodenticide anticoagulant)… read more here.
Keywords: dependent coagulopathy; contaminated synthetic; synthetic cannabinoid; exposure ... See more keywords
Molecular basis of vitamin K-dependent protein γ-glutamyl carboxylation
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DOI: 10.1038/s41422-025-01185-6
Abstract: Gamma-glutamyl carboxylase (GGCX) in human is the sole enzyme responsible for catalyzing the carboxylation of glutamate (Glu) to γ-carboxyglutamate (Gla), a process that relies on the deprotonation of reduced vitamin K. This post-translational modification of… read more here.
Keywords: glutamyl; vitamin dependent; dependent protein; carboxylation ... See more keywords
Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye–Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/ PLPHP Deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Neuropediatrics"
DOI: 10.1055/a-2003-9886
Abstract: Abstract Objective To describe a new phenotype and the diagnostic workup of a vitamin-B 6 -dependent epilepsy due to pyridoxal 5′-phosphate-binding protein (PLPBP) deficiency in an infant with early-onset epilepsy at the age of 5… read more here.
Keywords: dependent epilepsy; vitamin dependent; plphp; epilepsy due ... See more keywords
A novel prothrombin time method to measure all non-vitamin K-dependent oral anticoagulants (NOACs)
Sign Up to like & getrecommendations! Published in 2017 at "Upsala Journal of Medical Sciences"
DOI: 10.1080/03009734.2017.1370040
Abstract: Abstract Background: There is a clinical need for point-of-care (POC) methods for non-vitamin K-dependent oral anticoagulants (NOACs). We modified a routine POC procedure: Zafena’s Simple Simon™ PT-INR, a room-temperature, wet-chemistry prothrombin time method of the… read more here.
Keywords: non vitamin; dependent oral; chemistry; prothrombin time ... See more keywords
Comparative sequence analysis of vitamin K‐dependent coagulation factors
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Thrombosis and Haemostasis"
DOI: 10.1111/jth.15897
Abstract: Prothrombin, protein C, and factors VII, IX, and X are vitamin K (VK)‐dependent coagulation proteins that play an important role in the initiation, amplification, and subsequent attenuation of the coagulation response. Blood coagulation evolved in… read more here.
Keywords: dependent coagulation; sequence analysis; coagulation; vitamin dependent ... See more keywords
An in vitro study of canine cryopoor plasma to correct vitamin K-dependent coagulopathy in dogs.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of veterinary emergency and critical care"
DOI: 10.1111/vec.13049
Abstract: OBJECTIVE To compare the efficacy of fresh frozen plasma (FFP) with cryopoor plasma (CPP) to treat vitamin K-dependent factor deficiency in a canine in vitro setting. DESIGN In vitro laboratory study. SETTING University veterinary medical… read more here.
Keywords: plasma; ffp; canine; study ... See more keywords
CYP3A4 mutation causes vitamin D–dependent rickets type 3
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Investigation"
DOI: 10.1172/jci98680
Abstract: Genetic forms of vitamin D–dependent rickets (VDDRs) are due to mutations impairing activation of vitamin D or decreasing vitamin D receptor responsiveness. Here we describe two unrelated patients with early-onset rickets, reduced serum levels of… read more here.
Keywords: vitamin dependent; vitamin metabolites; cyp3a4; dependent rickets ... See more keywords
INR and vitamin K–dependent factor levels after vitamin K antagonist reversal with 4F-PCC or plasma
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DOI: 10.1182/bloodadvances.2022009015
Abstract: Key Points • 4F-PCC rapidly restores vitamin K–dependent factors to hemostatic levels in patients treated with VKA immediately after infusion.• Postreversal INR may not accurately reflect vitamin K–dependent factor restoration after a 4F–PCC infusion. read more here.
Keywords: dependent factor; vitamin dependent; inr vitamin; factor levels ... See more keywords
The Effects of Parenteral K1 Administration in Pseudoxanthoma Elasticum Patients Versus Controls. A Pilot Study
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DOI: 10.3389/fmed.2018.00086
Abstract: Introduction Pseudoxanthoma elasticum (PXE) is a rare disease caused by mutations in the ABCC6 gene. Vitamin K1 is involved in the posttranslational carboxylation of some proteins related to inhibition of the calcification process. Our aim… read more here.
Keywords: administration; pseudoxanthoma elasticum; parenteral administration; vitamin ... See more keywords
Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.1007219
Abstract: Purpose Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by deficiency of the CYP27B1 gene. This study aims to investigate the phenotypic and genotypic features of VDDR1A children in southern… read more here.
Keywords: long term; dependent rickets; vitamin dependent; diagnosis ... See more keywords