Results 141 to 150 of about 575,974 (287)

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates   +6 more
wiley   +1 more source

Emergency management of acute hypocalcaemia in adult patients

open access: yesEndocrine Connections, 2016
Jeremy Turner   +3 more
doaj   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss   +8 more
wiley   +1 more source

Emergency management of severe symptomatic hyponatraemia in adult patients

open access: yesEndocrine Connections, 2016
Stephen Ball   +3 more
doaj   +1 more source

Editorial: Debates in Clinical Management in Pediatric Endocrinology

open access: yesFrontiers in Endocrinology, 2021
Maria Loredana Marcovecchio   +3 more
doaj   +1 more source

A systematic review of transgender male rodent model methodology

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Summary of successful transgender male rodent model methods. Testosterone enanthate or cypionate injected SC or IM once per week at 18 mg/kg in mice or 3 mg/kg in rats should effectively match naive male testosterone levels of their respective species.
Kai Robertson   +4 more
wiley   +1 more source

Efficacy and Safety of Dotinurad Versus Febuxostat for the Treatment of Gout: A Randomized, Multicenter, Double‐Blind, Phase 3 Trial in China

open access: yesArthritis &Rheumatology, EarlyView.
Objective Dotinurad is a selective urate reabsorption inhibitor that reduces serum urate levels. We compared the efficacy and safety of dotinurad with febuxostat in Chinese patients with gout. Methods This phase 3, multicenter, randomized, double‐blind, parallel‐group study randomly allocated (1:1) eligible patients with gout to receive oral dotinurad ...
Jia Sun   +19 more
wiley   +1 more source

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