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Molecular Genetics and Metabolism Reports|June 11, 2021
A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1Margaret Reynolds, Laura A Linneman, Sofia Luna, et al.
Orphanet Journal of Rare Diseases|July 27, 2017
Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade's experienceVishal Saddi, Sean Beggs, Bruce Bennetts, et al.
HGG Advances|January 20, 2022
From karyotypes to precision genomics in 9p deletion and duplication syndromesEleanor I Sams, Jeffrey K Ng, Victoria Tate, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology|June 16, 2021
The common ABCA3E292V variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodelingYaniv Tomer, Jennifer Wambach, Lars Knudsen, et al.
American Journal of Respiratory Cell and Molecular Biology|May 6, 2026
Lentiviral-mediated gene complementation to rescue pathogenic ABCA3 variantsAshley L Cooney, Shakayla Lamer, Ping Yang, et al.
Biorxiv : the Preprint Server for Biology|September 5, 2025
Lentiviral-mediated gene complementation rescues pathogenic ABCA3 variantsAshley L Cooney, Shakayla Lamer, Ping Yang, et al.
Pediatric Research|January 16, 2019
Optimizing the AKI definition during first postnatal week using Assessment of Worldwide Acute Kidney Injury Epidemiology in Neonates (AWAKEN) cohortDavid Askenazi, Carolyn Abitbol, Louis Boohaker, et al.
Pediatric Pulmonology|July 11, 2012
Frontiers in pulmonary hypertension in infants and children with bronchopulmonary dysplasiaJoseph M Collaco, Lewis H Romer, Bridget D Stuart, et al.
Pediatric Research|July 4, 2018
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizuresJennifer A Wambach, Daniel J Wegner, Ping Yang, et al.
Cardiology in the Young|July 10, 2019
Persistence of right ventricular dysfunction and altered morphometry in asymptomatic preterm Infants through one year of age: Cardiac phenotype of prematurityCollin T Erickson, Meghna D Patel, Swati Choudhry, et al.
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