Publications by authors named "David A Weinstein"

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Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set.
Ruben J Overduin, Andrea B Haijer-Schreuder, Frederiec K Withaar, Sarah C Grünert, Jamas LaFreniere, David A Weinstein

Genet Med· December 2025

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Idiopathic Pathological Ketotic Hypoglycemia: Finding the Needle in a Haystack.
Joseph I Wolfsdorf, Terry G J Derks, Danielle Drachmann, Pratik Shah, Paul S Thornton, David A Weinstein

Horm Res Paediatr· June 2025

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Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).
David A Weinstein, Terry G Derks, David F Rodriguez-Buritica, Ayesha Ahmad, María-Luz Couce

J Inherit Metab Dis· March 2025

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Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis.
Karen J Quadrini, Catherine Vrentas, Christian Duke, Chris Wilson, Christian J Hinderer, David A Weinstein

Mol Ther Methods Clin Dev· September 2024

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Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia Estimated by Oral D-[6,6-2H2]-glucose.
Alessandro Rossi, Maaike H Oosterveer, Theo H van Dijk, Aycha Bleeker, Martijn Koehorst, David A Weinstein

J Clin Endocrinol Metab· January 2024

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Strategy for Generating Blinded Evidence for Single-Arm Trials with External Controls Using Expert Review of Home Video.
Xinruo Zhang, Katherine Brind'Amour, Kelly E King, Susan Hartmaier, Katherine Harris, David A Weinstein

Ther Innov Regul Sci· November 2023

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Fasting ketone levels vary by age: implications for differentiating physiologic from pathologic ketotic hypoglycemia.
Komalben Parmar, Maua Mosha, David A Weinstein, Rebecca Riba-Wolman

J Pediatr Endocrinol Metab· July 2023

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A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for in Glycogenolysis.
Charles J Arends, Lane H Wilson, Ana Estrella, Oh Sung Kwon, David A Weinstein

Int J Mol Sci· September 2022

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Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?
Or Steg Saban, Ben Pode-Shakked, Bassam Abu-Libdeh, Maya Granot, Galia Barkai, David A Weinstein

Eur J Med Genet· June 2022

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Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients.
Roberta Resaz, Davide Cangelosi, Daniela Segalerba, Martina Morini, Paolo Uva, David A Weinstein

Int J Mol Sci· December 2021

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Ketotic hypoglycemia in patients with Down syndrome.
Danielle Drachmann, Austin Carrigg, David A Weinstein, Jacob Sten Petersen, Henrik Thybo Christesen

JIMD Rep· November 2021

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Method comparison of beta-hydroxybutyrate point-of-care testing to serum in healthy children.
Komalben Parmar, Maua Mosha, David A Weinstein, Rebecca Riba-Wolman

JIMD Rep· November 2021

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The potential of dietary treatment in patients with glycogen storage disease type IV.
Terry G J Derks, Fabian Peeks, Foekje de Boer, Marieke Fokkert-Wilts, Hubert P J van der Doef, David A Weinstein

J Inherit Metab Dis· May 2021

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Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International.
Danielle Drachmann, Erica Hoffmann, Austin Carrigg, Beccie Davis-Yates, Valerie Weaver, David A Weinstein

Orphanet J Rare Dis· April 2021

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Emerging roles of autophagy in hepatic tumorigenesis and therapeutic strategies in glycogen storage disease type Ia: A review.
Jun-Ho Cho, David A Weinstein, Young Mok Lee

J Inherit Metab Dis· January 2021

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When sugar isn't sweet: neutropenia in GSD-Ib.
David A Weinstein

Blood· August 2020

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Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment.
Jerry Vockley, Steven F Dobrowolski, Georgianne L Arnold, Ruben Bonilla Guerrero, Terry G J Derks, David A Weinstein

Mol Genet Metab· April 2020

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Cornstarch requirements of the adult glycogen storage disease Ia population: A retrospective review.
Kathryn R Dahlberg, Iris A Ferrecchia, Monika Dambska-Williams, Traci E Resler, Katalin M Ross, David A Weinstein

J Inherit Metab Dis· March 2020

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Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance.
Fabian Peeks, Willemijn F Boonstra, Lut de Baere, Camilla Carøe, Thomas Casswall, David A Weinstein

J Inherit Metab Dis· March 2020

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Dietary Management of the Glycogen Storage Diseases: Evolution of Treatment and Ongoing Controversies.
Katalin M Ross, Iris A Ferrecchia, Kathryn R Dahlberg, Monika Dambska, Patrick T Ryan, David A Weinstein

Adv Nutr· March 2020

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Glucose-6-phosphate transporter mediates macrophage proliferation and functions by regulating glycolysis and mitochondrial respiration.
Eek Hyung Jeon, Tae Sub Park, Yuyeon Jang, Eunmi Hwang, Sung-Jo Kim, David A Weinstein

Biochem Biophys Res Commun· March 2020

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Glycogen storage disease type Ib: role of glucose-6-phosphate transporter in cell metabolism and function.
Sang Wan Sim, David A Weinstein, Young Mok Lee, Hyun Sik Jun

FEBS Lett· January 2020

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Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI.
Lane H Wilson, Jun-Ho Cho, Ana Estrella, Joan A Smyth, Rong Wu, David A Weinstein

Hepatol Commun· November 2019

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A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor.
Dina Khalaf, Heather Bell, David Dale, Vikas Gupta, Hanna Faghfoury, David A Weinstein

JIMD Rep· September 2019

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