Publications by authors named "Heather Church"

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Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort.
Aimée Donald, Simon A Jones, Derralynn A Hughes, Heather J Church,

Genet Med· September 2025

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Iron metabolism and hematological abnormalities in adult patients affected with mucopolysaccharidoses.
Gabija Kaciulyte, Goknur Yorulmaz, Reena Sharma, Simon A Jones, Robert Wynn, Heather Church

Mol Genet Metab Rep· September 2025

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Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease.
Eamon P McCarron, Andrew Oldham, Amit Herwadkar, Sarah Jenkinson, Christopher Campbell, Heather J Church

Am J Med Genet A· July 2025

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Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots.
Austin Shaff, Khaja Basheeruddin, Soumeya Bekri, Heather A Brown, Heather J Church

Mol Genet Metab· July 2025

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Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.
Elena Urizar, Eamon P McCarron, Chaitanya Gadepalli, Andrew Bentley, Peter Woolfson, Heather J Church

Genes (Basel)· July 2025

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Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening.
Maria Jose de Castro Lopez, Fiona J White, Victoria Holmes, Jane Roberts, Teresa H Y Wu, Heather J Church

Int J Neonatal Screen· February 2025

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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.
María José de Castro, Simon A Jones, Javier de Las Heras, Paula Sánchez-Pintos, María L Couce, Heather Church

Orphanet J Rare Dis· June 2024

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Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK.
Karen Bean, Simon A Jones, Anupam Chakrapani, Suresh Vijay, Teresa Wu, Heather Church

Int J Neonatal Screen· June 2024

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Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Teresa H Y Wu, Heather A Brown, Heather J Church, Christopher J Kershaw, Rebekah Hutton

Mol Genet Metab· May 2024

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Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.
Soumeya Bekri, Annette Bley, Heather A Brown, Charlotte Chanson, Heather J Church

Mol Genet Metab· May 2024

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Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.
Teodoro Jerves Serrano, Jessica Gold, James A Cooper, Heather J Church, Karen L Tylee

J Clin Med· March 2024

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Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.
Nuria Puente-Ruiz, Ian Ellis, Marsel Bregu, Cliff Chen, Heather J Church

Mol Genet Metab Rep· December 2023

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Defect-free graphene enhances enzyme delivery to fibroblasts derived from patients with lysosomal storage disorders.
Yingxian Chen, Tooba Taufiq, Niting Zeng, Neus Lozano, Angeliki Karakasidi, Heather Church

Nanoscale· June 2023

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Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. 2022, , 20".
Simon A Jones, David Cheillan, Anupam Chakrapani, Heather J Church, Simon Heales

Int J Neonatal Screen· February 2023

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Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.
Elena V Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Heather J Church

Hum Mutat· December 2022

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Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies.
Karolina M Stepien, Neve Cufflin, Aimee Donald, Simon Jones, Heather Church

Int J Mol Sci· September 2022

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Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe.
Simon A Jones, David Cheillan, Anupam Chakrapani, Heather J Church, Simon Heales

Int J Neonatal Screen· March 2022

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A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes.
Alberto Burlina, Simon A Jones, Anupam Chakrapani, Heather J Church, Simon Heales

Int J Neonatal Screen· March 2022

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Advance Care Planning for Individuals With Intellectual and Developmental Disabilities: A State-by-State Content Analysis of Person-Centered Service Plans.
Jacqueline McGinley, Christina N Marsack-Topolewski, Heather L Church, Victoria Knoke

Intellect Dev Disabil· August 2021

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Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease.
Jane E Potter, Gemma Petts, Arunabha Ghosh, Fiona J White, Jane L Kinsella, Heather Church

Orphanet J Rare Dis· May 2021

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A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I.
Kiterie M E Faller, Alison E Ridyard, Rodrigo Gutierrez-Quintana, Angie Rupp, Celia Kun-Rodrigues, Heather J Church

J Vet Intern Med· September 2020

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The lysosomal disease caused by mutant VPS33A.
Elena V Pavlova, Aleksey Shatunov, Lena Wartosch, Alena I Moskvina, Lena E Nikolaeva, Heather J Church

Hum Mol Genet· August 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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Impact of Caregiver Burden on Quality of Life for Parents of Adult Children With Autism Spectrum Disorder.
Christina N Marsack-Topolewski, Heather L Church

Am J Intellect Dev Disabil· March 2019

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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, Heather Church

Acta Ophthalmol· August 2018

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