Publications by authors named "Jean Mercer"

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Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Giorgia Di Lorenzo, Lena M Westermann, Timur A Yorgan, Julian Stürznickel, Nataniel F Ludwig, Jean Mercer

Genet Med· December 2021

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Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.
Maureen Cleary, James Davison, Rachel Gould, Tarekegn Geberhiwot, Derralynn Hughes, Jean Mercer

Orphanet J Rare Dis· January 2021

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Strategies for the Induction of Immune Tolerance to Enzyme Replacement Therapy in Mucopolysaccharidosis Type I.
Arunabha Ghosh, Aiyin Liao, Claire O'Leary, Jean Mercer, Karen Tylee

Mol Ther Methods Clin Dev· June 2019

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A decade of excellent transplant survival in children with inherited metabolic diseases: A report from a single metabolic transplant centre in Europe.
Su Han Lum, Andrew Will, Heather J Church, Jean Mercer, Karen L Tylee

Blood Cell Ther· May 2019

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Substrate accumulation and extracellular matrix remodelling promote persistent upper airway disease in mucopolysaccharidosis patients on enzyme replacement therapy.
Abhijit Ricky Pal, Jean Mercer, Simon A Jones, Iain A Bruce, Brian W Bigger

PLoS One· February 2019

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Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.
Julie B Eisengart, Kyle D Rudser, Yong Xue, Paul Orchard, Weston Miller, Jean Mercer

Genet Med· November 2018

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The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler).
Ahmed Javed, Tariq Aslam, Simon A Jones, Jean Mercer, Karen Tyler

Acta Ophthalmol· August 2018

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Transnasal adenoidectomy in mucopolysaccharidosis.
Rebecca Harrison, Simone Schaefer, Laura Warner, Jean Mercer, Simon Jones

Int J Pediatr Otorhinolaryngol· August 2018

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Home infusion with Elosulfase alpha (Vimizim) in a UK Paediatric setting.
Niamh Finnigan, Jane Roberts, Jean Mercer, Simon A Jones

Mol Genet Metab Rep· March 2018

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IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Arunabha Ghosh, Jean Mercer, Sabrina Mackinnon, Wyatt W Yue, Heather Church

Hum Mutat· November 2017

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Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation.
Su Han Lum, Karolina M Stepien, Arunabha Ghosh, Alexander Broomfield, Heather Church, Jean Mercer

J Inherit Metab Dis· May 2017

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Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I.
Sarah Laraway, Jean Mercer, Elisabeth Jameson, Jane Ashworth, Pauline Hensman

J Pediatr· November 2016

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Maternal mosaicism for deletion clarifies recurrence risk in MPS I.
Catherine Breen, Jean Mercer, Simon A Jones, Amir Jahic, Lesley Heptinstall

Hum Genome Var· October 2016

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Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres.
Arunabha Ghosh, Weston Miller, Paul J Orchard, Simon A Jones, Jean Mercer

Mol Genet Metab· March 2016

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Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.
Eveline J Langereis, Matthijs M den Os, Catherine Breen, Simon A Jones, Olga C Knaven, Jean Mercer

J Bone Joint Surg Am· March 2016

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Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines.
Mieke Aldenhoven, Simon A Jones, Denise Bonney, Roisin E Borrill, Mary Coussons, Jean Mercer

Biol Blood Marrow Transplant· June 2015

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Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome.
Abhijit Ricky Pal, Eveline J Langereis, Muhammad A Saif, Jean Mercer, Heather J Church

Orphanet J Rare Dis· April 2015

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Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.
Eveline J Langereis, Naomi van Vlies, Heather J Church, Ronald B Geskus, Carla E M Hollak, Jean Mercer

Mol Genet Metab· February 2015

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Parenting: section deserves a scolding.
Jean Mercer

Science· September 2014

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Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings.
Sarah Laraway, Catherine Breen, Jean Mercer, Simon Jones, James E Wraith

Mol Genet Metab· July 2013

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Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experience.
Daniel H Wiseman, Jean Mercer, Karen Tylee, Nilima Malaiya, Denise K Bonney

J Inherit Metab Dis· March 2013

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Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler's syndrome after pharmacological enzyme replacement therapy.
Muhammad Ameer Saif, Brian W Bigger, Karen E Brookes, Jean Mercer, Karen L Tylee

Haematologica· September 2012

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Martial arts research: weak evidence.
Jean Mercer

Science· October 2011

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The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome).
Elke Miebach, Heather Church, Alan Cooper, Jean Mercer, Karen Tylee

J Inherit Metab Dis· June 2011

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The concept of psychological regression: metaphors, mapping, Queen Square, and Tavistock Square.
Jean Mercer

Hist Psychol· May 2011

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