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. Int. J. Neonatal Screen. 2022, 8, 20”

Jones, Simon A.; Cheillan, David; Chakrapani, Anupam; Church, Heather J.; Heales, Simon; Wu, Teresa H. Y.; Morton, Georgina; Roberts, Patricia; Sluys, Erica F.; Burlina, Alberto

doi:10.3390/ijns9010008

Open AccessReply

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. Int. J. Neonatal Screen. 2022, 8, 20”

by

Simon A. Jones

¹,

David Cheillan

²

,

Anupam Chakrapani

³,

Heather J. Church

¹,

Simon Heales

⁴,

Teresa H. Y. Wu

¹

,

Georgina Morton

⁵,

Patricia Roberts

⁵,

Erica F. Sluys

^6,† and

Alberto Burlina

^7,*

¹

Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, St Mary’s Hospital, Oxford Road, Manchester M13 9WL, UK

²

Service Biochimie et Biologie Moléculaire, Groupement Hospitalier Est, Hospices Civils de Lyon, 69002 Lyon, France

³

Department of Metabolic Medicine, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK

⁴

Neurometabolic Unit, University College London Hospitals NHS Foundation Trust and Enzymes Laboratory, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK

⁵

ArchAngel MLD Trust, Registered Charity No. 1157825, London W2 1DT, UK

⁶

Helvet Health, Ruelle de la Muraz 4, 1260 Nyon, Switzerland

⁷

Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital Padova, 35128 Padova, Italy

^*

Author to whom correspondence should be addressed.

^†

Current address: Sluys Scientific, Chemin du Rayon de Soleil 10, 1260 Nyon, Switzerland.

Int. J. Neonatal Screen. 2023, 9(1), 8; https://doi.org/10.3390/ijns9010008

Submission received: 28 January 2023 / Accepted: 6 February 2023 / Published: 16 February 2023

Download Versions Notes

The commentary provided by Maase et al. [1] demonstrates how the novel algorithm [2] could be utilised by countries to evaluate disorders through expanded newborn screening programmes. We read with interest the detail provided about the Dutch evaluation method and appreciate the similarities described in their point-based scoring approach. We thank the authors for their comments.

Conflicts of Interest

The authors declare no conflict of interest.

References

Maase, R.; Jansen, M.E.; Heijnen, M.-L.; Dekkers, E. Comment on Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20. Int. J. Neonatal Screen. 2023, 9, 7. [Google Scholar] [CrossRef]
Burlina, A.; Jones, S.A.; Chakrapani, A.; Church, H.J.; Heales, S.; Wu, T.H.Y.; Morton, G.; Roberts, P.; Sluys, E.F.; Cheillan, D. A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes. Int. J. Neonatal Screen. 2022, 8, 25. [Google Scholar] [CrossRef] [PubMed]

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© 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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MDPI and ACS Style

Jones, S.A.; Cheillan, D.; Chakrapani, A.; Church, H.J.; Heales, S.; Wu, T.H.Y.; Morton, G.; Roberts, P.; Sluys, E.F.; Burlina, A. 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. Int. J. Neonatal Screen. 2022, 8, 20”. Int. J. Neonatal Screen. 2023, 9, 8. https://doi.org/10.3390/ijns9010008

AMA Style

Jones SA, Cheillan D, Chakrapani A, Church HJ, Heales S, Wu THY, Morton G, Roberts P, Sluys EF, Burlina A. 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. Int. J. Neonatal Screen. 2022, 8, 20”. International Journal of Neonatal Screening. 2023; 9(1):8. https://doi.org/10.3390/ijns9010008

Chicago/Turabian Style

Jones, Simon A., David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, and Alberto Burlina. 2023. "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. Int. J. Neonatal Screen. 2022, 8, 20”" International Journal of Neonatal Screening 9, no. 1: 8. https://doi.org/10.3390/ijns9010008

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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. Int. J. Neonatal Screen. 2022, 8, 20”

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