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Church, Heather
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1

Exploring the Cost-Effectiveness of Newborn Screening for M..:

Bean, Karen ; Jones, Simon A. ; Chakrapani, Anupam...
International Journal of Neonatal Screening.  10 (2024)  3 - p. 45 , 2024
Link: https://doi.org/10.3390/..
 
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2

Improving newborn screening test performance for metachroma..:

WU, Teresa H.Y. ; Brown, Heather A. ; Church, Heather J....
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108349 , 2024
Link: https://doi.org/10.1016/..
 
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3

Higher precision, first tier newborn screening for metachro..:

Bekri, Soumeya ; Bley, Annette ; Brown, Heather A....
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108436 , 2024
Link: https://doi.org/10.1016/..
 
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4

Hepatomegaly and Splenomegaly: An Approach to the Diagnosis..:

Jerves Serrano, Teodoro ; Gold, Jessica ; Cooper, James A....
Journal of Clinical Medicine.  13 (2024)  5 - p. 1465 , 2024
Link: https://doi.org/10.3390/..
 
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5

Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues ..:

de Castro, María José ; Jones, Simon A ; de las Heras, Javier...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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6

How many sulphatase deficiencies become multiple? The diagn..:

Church, Heather J. ; Brammeier, Kathryn L. ; Petty, June...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107796 , 2024
Link: https://doi.org/10.1016/..
 
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7

Clinical outcomes and sustained biochemical engraftment fol..:

Jones, Simon ; Kinsella, Jane ; Holley, Rebecca J....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107905 , 2024
Link: https://doi.org/10.1016/..
 
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8

A UK-based pre-pilot newborn screening study for metachroma..:

Wu, Teresa Hoi-Yee ; Brown, Heather ; Church, Heather J....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108088 , 2024
Link: https://doi.org/10.1016/..
 
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9

Validation of an assay to measure iduronate-2-sulfatase act..:

French, Stephanie A. ; Brammeier, Kathryn L. ; Jones, Simon..
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107106 , 2023
Link: https://doi.org/10.1016/..
 
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10

Sustained improvement of clinical CNS and somatic features ..:

Donald, Aimee ; Potter, Jane ; Church, Heather J....
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107083 , 2023
Link: https://doi.org/10.1016/..
 
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11

Biochemical and clinical outcomes in childhood-onset and ad..:

Stepien, Karolina M. ; Lorenzo, Jorge Menendez ; Church, Heather J....
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107327 , 2023
Link: https://doi.org/10.1016/..
 
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12

Twice weekly dosing with sebelipase alfa rescues severely i..:

Lopez, Maria Jose De Castro ; de Frutos, Laura López ; Brammeier, Kathryn L....
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107071 , 2023
Link: https://doi.org/10.1016/..
 
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13

Long-term outcomes in two adult siblings with Fucosidosis –..:

Puente-Ruiz, Nuria ; Ellis, Ian ; Bregu, Marsel...
Molecular Genetics and Metabolism Reports.  37 (2023)  - p. 101009 , 2023
Link: https://doi.org/10.1016/..
 
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14

Defect-free graphene enhances enzyme delivery to fibroblast..:

Chen, Yingxian ; Taufiq, Tooba ; Zeng, Niting...
Nanoscale.  15 (2023)  21 - p. 9348-9364 , 2023
Link: https://doi.org/10.1039/..
 
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15

Reply to Maase et al. Comment on "Jones et al. Application ..:

Jones, Simon A. ; Cheillan, David ; Chakrapani, Anupam...
International Journal of Neonatal Screening.  9 (2023)  1 - p. 8 , 2023
Link: https://doi.org/10.3390/..
 
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