Explanipedia

Development of a Beta Cell-Specific Expression Control Element for Recombinant Adeno-Associated Virus Open

Sunghee Chai, Young‐Jin Kim, Feorillo Galivo, Craig Dorrell, Leslie Wakefield , et al. · 2022

Diabetes mellitus, caused by loss or dysfunction of the insulin-producing beta cells of the pancreas, is a promising target for recombinant adeno-associated virus (rAAV)-mediated gene therapy. To target potential therapeutic payloads speci…

Expanding the phenotypic spectrum of ARCN1-related syndrome Open

Alyssa Ritter, Jessica I. Gold, Hiroshi Hayashi, Amanda M. Ackermann, Stephanie Hanke , et al. · 2022

2021 Recognition of Reviewers Open

Ali David, AbdelAziz Farouk A. Mohamed, Muhammad Abdullah Naveed, Abdul Ghani, Charlotte Abou-Elias , et al. · 2022

Journal Article 2021 Recognition of Reviewers Get access The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 4, April 2022, Pages 899–908, https://doi.org/10.1210/clinem/dgac066 Published: 25 February 2022 Article history…

Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events Open

Elizabeth Rosenfeld, Lauren Mitteer, Kara E. Boodhansingh, Susan Becker, Heather McKnight , et al. · 2021

Focal hyperinsulinism (HI) comprises nearly 50% of all surgically treated HI cases and is cured if the focal lesion can be completely resected. Pre-operative localization of the lesion is thus critical. Few cases of hyperinsulinism with mu…

Early postnatal activation of the hypoxia pathway disrupts β-cell function Open

Juxiang Yang, Batoul Hammoud, Abigail Ridler, Kyoung‐Jae Won, Toshinori Hoshi , et al. · 2021

Hypoxic insults in the perinatal period can lead to persistent hyperinsulinism and profound hypoglycemia in newborns. We studied the impact of the hypoxia-inducible factor 1A (HIF1A) pathway on postnatal β-cell function. Rat pups were trea…

A Novel Homozygous Missense Mutation in the <i>YARS</i> Gene: Expanding the Phenotype of <i>YARS</i> Multisystem Disease Open

Rawah K H M Zeiad, Edwin Ferren, Denise Young, Shanelle J. De Lancy, Demitrios Dedousis , et al. · 2021

Aminoacyl-tRNA synthetases (ARSs) are crucial enzymes for protein translation. Mutations in genes encoding ARSs are associated with human disease. Tyrosyl-tRNA synthetase is encoded by YARS which is ubiquitously expressed and implicated in…

Hyperinsulinism of Kabuki Syndrome: Clinical Characteristics and Treatments Open

Heather McNight, Kara E. Boodhansingh, Laureen Mitteer, Kosuke Izumi, Katherine Lord , et al. · 2020

Intrapreneurship: Strategic Approaches for Managing Disruptive Innovation in Clinical and Research Projects Open

Amanda M. Ackermann, Flaura K. Winston · 2019

Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection–Electrospray Ionization–Quadrupole Time-of-Flight Mass Spectrometry Open

Jie Chen, Xueli Li, Andrew C. Edmondson, Gail Ditewig Meyers, Kosuke Izumi , et al. · 2019

BACKGROUND Congenital disorders of glycosylation (CDG) represent 1 of the largest groups of metabolic disorders with >130 subtypes identified to date. The majority of CDG subtypes are disorders of N-linked glycosylation, in which carboh…

Oral D-galactose supplementation in PGM1-CDG Open

Sunnie Wong, Therese Gadomski, Monique van Scherpenzeel, Tomáš Honzík, Hana Hansíková , et al. · 2017

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency Open

Sunnie Wong, Lesa J. Beamer, Therese Gadomski, Tomáš Honzík, Miski Mohamed , et al. · 2016

Managing congenital hyperinsulinism: improving outcomes with a multidisciplinary approach Open

Andrew Palladino, Amanda M. Ackermann · 2015

Amanda M Ackermann, Andrew A Palladino Division of Endocrinology and Diabetes, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA Abstract: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypog…

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