Publications by authors named "Bruce Barshop"

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Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
Judith S Miller, Cristan Farmer, Susan Blair, Simona Bianconi, Natacha Akshoomoff, Bruce A Barshop

Pediatr Neurol· October 2025

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Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control.
Taryn Diep, Wesley Zhou, Rachel E Reyes, Matthew Nitzahn, Isabel L Day, Bruce A Barshop

Mol Ther Nucleic Acids· March 2025

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Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
Eric L Wallace, Ozlem Goker-Alpan, William R Wilcox, Myrl Holida, John Bernat, Bruce A Barshop

J Med Genet· May 2024

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Pregnancy and Breastfeeding in Nephropathic Cystinosis With Native Kidneys.
Lillian Chan, Jenny Wichart, Tony Kiang, Rshmi Khurana, Jon A Gangoiti, Bruce A Barshop

Kidney Int Rep· July 2022

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Tumor metabolism and neurocognition in CNS lymphoma.
Huimin Geng, Mazie Tsang, Lakshmipriya Subbaraj, Joseph Cleveland, Lingjing Chen, Bruce A Barshop

Neuro Oncol· October 2021

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Dairy Fat Intake, Plasma Pentadecanoic Acid, and Plasma Iso-heptadecanoic Acid Are Inversely Associated With Liver Fat in Children.
Mary Catherine Sawh, Martina Wallace, Emma Shapiro, Nidhi P Goyal, Kimberly P Newton, Bruce A Barshop

J Pediatr Gastroenterol Nutr· April 2021

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Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
Cristan A Farmer, Aaron J Kaat, Audrey Thurm, Irina Anselm, Natacha Akshoomoff, Bruce A Barshop

Am J Intellect Dev Disabil· November 2020

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Cardiac tissue citric acid cycle intermediates in exercised very long-chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglyceride.
Garen Gaston, Jon A Gangoiti, Shelley Winn, Benjamin Chan, Bruce A Barshop

J Inherit Metab Dis· November 2020

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Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes.
Jennifer Concepcion, Katherine Chen, Rintaro Saito, Jon Gangoiti, Eric Mendez, Bruce A Barshop

PLoS One· September 2020

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A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
Miles D Thompson, Alexej A Knaus, Bruce A Barshop, Almuth Caliebe, Hiltrud Muhle

Eur J Med Genet· April 2020

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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Bernd C Schwahn, Thomas Scheffner, Hedwig Stepman, Peter Verloo, Anibh M Das, Bruce A Barshop

JIMD Rep· March 2020

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Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.
William L Nyhan, Karen McGowan, Bruce A Barshop

Clin Chim Acta· December 2019

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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Ashleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, Nouriya Al-Sanaa, Hind Y Al-Abdulwahed, Bruce A Barshop

Nat Genet· August 2018

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Promises and pitfalls of untargeted metabolomics.
Ilya Gertsman, Bruce A Barshop

J Inherit Metab Dis· May 2018

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Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.
Charles Q Li, Bruce A Barshop, Annette Feigenbaum, Paritosh C Khanna

J Radiol Case Rep· January 2018

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A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
Barry J Byrne, Tarekegn Geberhiwot, Bruce A Barshop, Richard Barohn, Derralynn Hughes

Orphanet J Rare Dis· August 2017

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Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
Shane C Quinonez, Andrea H Seeley, Cindy Lam, Thomas W Glover, Bruce A Barshop

JIMD Rep· August 2016

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The mPEG-PCL Copolymer for Selective Fermentation of Staphylococcus lugdunensis Against Candida parapsilosis in the Human Microbiome.
Ming-Shan Kao, Yanhan Wang, Shinta Marito, Stephen Huang, Wan-Zhen Lin, Bruce A Barshop

J Microb Biochem Technol· August 2016

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Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Craig B Langman, Bruce A Barshop, Georges Deschênes, Francesco Emma, Paul Goodyer

Kidney Int· June 2016

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Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes.
Ilya Gertsman, Wynonna S Johnson, Connor Nishikawa, Jon A Gangoiti, Bonnie Holmes, Bruce A Barshop

Clin Chem· May 2016

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p300 is not required for metabolic adaptation to endurance exercise training.
Samuel A LaBarge, Christopher W Migdal, Elisa H Buckner, Hiroshi Okuno, Ilya Gertsman, Bruce A Barshop

FASEB J· April 2016

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In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.
Thomas Opladen, Martin Lindner, Anibh M Das, Thorsten Marquardt, Aneal Khan, Bruce A Barshop

Mol Genet Metab· January 2016

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Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.
Ilya Gertsman, Bruce A Barshop, Jan Panyard-Davis, Jon A Gangoiti, William L Nyhan

JIMD Rep· September 2015

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Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome.
Ilya Gertsman, Jon A Gangoiti, William L Nyhan, Bruce A Barshop

Mol Genet Metab· March 2015

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Validation of a dual LC-HRMS platform for clinical metabolic diagnosis in serum, bridging quantitative analysis and untargeted metabolomics.
Ilya Gertsman, Jon A Gangoiti, Bruce A Barshop

Metabolomics· April 2014

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