Publications by authors named "Eleanor Botha"

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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).
Dawn A Laney, Kayla A Banks, Eleanor G Botha, Maria Keever, Valynne Long

Orphanet J Rare Dis· January 2025

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CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Kathryn L Berrier, Zoheb B Kazi, Sean N Prater, Deeksha S Bali, Jennifer Goldstein, Eleanor G Botha

Genet Med· November 2015

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CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Kathryn L Berrier, Zoheb B Kazi, Sean N Prater, Deeksha S Bali, Jennifer Goldstein, Eleanor G Botha

Genet Med· July 2015

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CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement Therapy.
Hamoud H Al Khallaf, Jennifer Propst, Serge Geffrard, Eleanor Botha, M Ali Pervaiz

JIMD Rep· February 2013

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The emerging phenotype of long-term survivors with infantile Pompe disease.
Sean N Prater, Suhrad G Banugaria, Stephanie M DeArmey, Eleanor G Botha, Erin M Stege

Genet Med· September 2012

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LMNA mutations in atypical Werner's syndrome.
Lishan Chen, Lin Lee, Brian A Kudlow, Heloisa G Dos Santos, Olav Sletvold, Eleanor G Botha

Lancet· August 2003

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