Publications by authors named "Bianca Link"

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Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey.
Joseph Muenzer, Jaco Botha, Hernan Amartino, Roberto Giugliani, Paul Harmatz, Bianca Link

Mol Genet Metab· December 2025

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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, Bianca Link

Orphanet J Rare Dis· July 2025

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Hunter Syndrome and Bull's Eye Maculopathy.
Sadiq Said, Frank Blaser, Bianca Link, Jeanne Martine Gunzinger, James Hanson

Klin Monbl Augenheilkd· April 2024

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Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey.
Bianca Link, Jaco Botha, Roberto Giugliani

JIMD Rep· January 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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Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives.
Esmee Oussoren, Margreet A E M Wagenmakers, Bianca Link, Jan C van der Meijden, W W M Pim Pijnappel

Bone· February 2021

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Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.
Joel Charrow, Tord D Alden, Catherine Ann R Breathnach, Geoffrey P Frawley, Christian J Hendriksz, Bianca Link

Mol Genet Metab· January 2015

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Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.
Anke Thümler, Elke Miebach, Christina Lampe, Susanne Pitz, Wolfgang Kamin, Bianca Link

J Inherit Metab Dis· November 2012

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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, Olaf Bodamer, Iain A Bruce, Bianca Link

Orphanet J Rare Dis· November 2011

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Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.
Bianca Link, Louise Lapagesse de Camargo Pinto, Roberto Giugliani, James Edmond Wraith, Nathalie Guffon

Orthop Rev (Pavia)· September 2010

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Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis.
Rolando Cimaz, Giovanni Valentino Coppa, Isabelle Koné-Paut, Bianca Link, Gregory M Pastores

Pediatr Rheumatol Online J· October 2009

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