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. 2021 Feb 26;16:103. doi: 10.1186/s13023-021-01693-9

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© The Author(s) 2021

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 1 — Study algorithm. Infants with a positive newborn screening (NBS) test came from different primary care health centers. The clinical and biochemical approach of the 84 unrelated individuals initially referred to our center as G6PDd started with a new measurement of the G6PD activity in dried blood spots (DBS) and further G6PD genotyping experiments that unequivocally confirmed the G6PDd status in 81 patients, with or without neonatal jaundice (NNJ)