Kim‐Hanh Le Quan Sang
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View article: Elucidating the novel mechanism of organochlorine fungicides in inhibiting human and rat gonadal 3β-hydroxysteroid dehydrogenase via molecular docking and 3D-QSAR analysis
Elucidating the novel mechanism of organochlorine fungicides in inhibiting human and rat gonadal 3β-hydroxysteroid dehydrogenase via molecular docking and 3D-QSAR analysis Open
Organochlorine fungicides are widely used in agriculture and personal care products for their antimicrobial properties, but growing evidence suggests they may act as endocrine disruptors. This study investigated the inhibitory effects of s…
View article: The Pharmacokinetic Profile of Palovarotene: An Open-Label Phase I Trial Investigating the Effect of Food and Potential for Drug–Drug Interaction in Healthy Participants
The Pharmacokinetic Profile of Palovarotene: An Open-Label Phase I Trial Investigating the Effect of Food and Potential for Drug–Drug Interaction in Healthy Participants Open
NCT04829773.
View article: A Pharmacokinetic, Safety, and Tolerability Trial of Palovarotene in Healthy Japanese and Non-Japanese Participants
A Pharmacokinetic, Safety, and Tolerability Trial of Palovarotene in Healthy Japanese and Non-Japanese Participants Open
Japanese and non-Japanese groups had similar pharmacokinetic profiles, indicating that palovarotene dose adjustments are not necessary for Japanese patients with FOP.
View article: The Effects of Palovarotene in Patients with Fibrodysplasia Ossificans Progressiva: A Plain Language Summary
The Effects of Palovarotene in Patients with Fibrodysplasia Ossificans Progressiva: A Plain Language Summary Open
What is this summary about? This is a plain language summary of an article originally published in the Journal of Bone and Mineral Research. People with fibrodysplasia ossificans progressiva (FOP) become physically disabled over time as ne…
View article: Reduction of New Heterotopic Ossification ( <scp>HO</scp> ) in the <scp>Open‐Label</scp> , Phase 3 <scp>MOVE</scp> Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva ( <scp>FOP</scp> )
Reduction of New Heterotopic Ossification ( <span>HO</span> ) in the <span>Open‐Label</span> , Phase 3 <span>MOVE</span> Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva ( <span>FOP</span> ) Open
Fibrodysplasia ossificans progressiva (FOP) is an ultra‐rare, severely disabling genetic disorder of progressive heterotopic ossification (HO). The single‐arm, open‐label, phase 3 MOVE trial (NCT03312634) assessed efficacy and safety of pa…
View article: Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies
Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies Open
Nitisinone (NTBC) was recently approved to treat alkaptonuria (AKU), but there is no information on its impact on oxidative stress and inflammation, which are observed in AKU. Therefore, serum samples collected during the clinical studies …
View article: The natural history of fibrodysplasia ossificans progressiva: A prospective, global 36-month study
The natural history of fibrodysplasia ossificans progressiva: A prospective, global 36-month study Open
Results from individuals receiving standard care for up to 3 years in this natural history study show the debilitating effect and progressive nature of FOP cross-sectionally and longitudinally, with greatest progression during childhood an…
View article: Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study Open
This study represents one of the largest datasets of prospectively collected medical and longitudinal growth data in children with achondroplasia. It serves as a robust historical control to measure therapeutic interventions against and to…
View article: Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva
Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva Open
Background Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heterotopic ossification…
View article: OR29-05 A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP): 12-Month Outcomes
OR29-05 A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP): 12-Month Outcomes Open
Background: FOP is an ultra-rare, severely disabling genetic disorder characterized by episodic flare-ups and heterotopic ossification (HO) leading to restricted movement, physical disability, and early death. FOP may initially be misdiagn…
View article: Growth charts in Kabuki syndrome 1
Growth charts in Kabuki syndrome 1 Open
Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A . KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently repo…
View article: Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria Open
The clinical effects of alkaptonuria (AKU) are delayed and ageing influences disease progression. Morbidity of AKU is secondary to high circulating homogentisic acid (HGA) and ochronosis. It is not known whether HGA is produced by or proce…
View article: C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia Open
In children with achondroplasia, once-daily subcutaneous administration of vosoritide was associated with a side-effect profile that appeared generally mild. Treatment resulted in a sustained increase in the annualized growth velocity for …
View article: Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2
Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 Open
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the …