Publications by authors named "Jennifer Audi"

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Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.
Barbara K Burton, Hernan Amartino, Roberto Giugliani, Christoph Kampmann, Julian Raiman, Jennifer Audi

JIMD Rep· January 2026

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Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey.
Joseph Muenzer, Hernan Amartino, Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin, Jennifer Audi

Orphanet J Rare Dis· July 2025

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Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.
Joseph Muenzer, Hernan Amartino, Barbara K Burton, Maurizio Scarpa, Anna Tylki-Szymańska, Jennifer Audi

Mol Genet Metab· October 2024

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A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.
Olulade Ayodele, Daniel Fertek, Obaro Evuarherhe, Csaba Siffel, Jennifer Audi

Int J Neonatal Screen· October 2024

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Patient preferences in genetic newborn screening for rare diseases: study protocol.
Sylvia Martin, Emanuele Angolini, Jennifer Audi, Enrico Bertini, Lucia Pia Bruno

BMJ Open· April 2024

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Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey.
Heather Lau, Paul Harmatz, Jaco Botha, Jennifer Audi, Bianca Link

Mol Genet Metab Rep· December 2023

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Ricin poisoning: a comprehensive review.
Jennifer Audi, Martin Belson, Manish Patel, Joshua Schier, John Osterloh

JAMA· November 2005

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