Heather J. Church
Oxford Road
Manchester, ENG, United Kingdom
Manchester, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 40 publications
Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.
Journal: Genes
Published: July 04, 2025
Failure of Allogeneic Transplant to Correct Sialidosis Despite Early Diagnosis and Full Donor Engraftment of Non-Carrier Leucocytes.
Journal: Journal of inherited metabolic disease
Published: May 22, 2025
Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots.
Journal: Molecular genetics and metabolism
Published: March 29, 2025
250 cases of "type 2 Gaucher disease": A novel system of clinical categorisation and evidence of genotype: Phenotype correlation.
Journal: Molecular genetics and metabolism
Published: February 23, 2025
Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease.
Journal: American journal of medical genetics. Part A
Published: December 23, 2024
Iron metabolism and hematological abnormalities in adult patients affected with mucopolysaccharidoses.
Journal: Molecular genetics and metabolism reports
Published: November 29, 2024
Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening.
Journal: International journal of neonatal screening
Published: November 03, 2024
Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 21, 2024
Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK.
Journal: International journal of neonatal screening
Published: March 08, 2024
Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.
Journal: Journal of clinical medicine
Published: February 04, 2024
Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.
Journal: Molecular genetics and metabolism
Published: January 29, 2024
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Journal: Molecular genetics and metabolism
Published: December 13, 2023
Last Updated: 09/26/2026