ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0019.5-11 | Translational highlights | ESPEYB19

5.11. A reference range for plasma levels of inorganic pyrophosphate in children using the ATP sulfurylase method

E Bernhard , Y Nitschke , G Khursigara , Y Sabbagh , Y Wang , F Rutsch

J Clin Endocrinol Metab. 2022 Jan 1;107(1):109-118.Abstract: https://pubmed-ncbi-nlm-nih-gov/34498693/In Brief: This study established a standard range of Inorganic Pyrophosphate (PPi) between 2.36 and 4.44 µM (5th-95th percentiles) in the blood plasma of children and adolescents aged 0 to 18 years, using the ATP sulfurylase assay. There was no sex difference and the range is similar t...
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ey0019.5-7 | Advances in clinical practice | ESPEYB19

5.7. Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies

CR Ferreira , K Kintzinger , ME Hackbarth , U Botschen , Y Nitschke , MZ Mughal , G Baujat , D Schnabel , E Yuen , WA Gahl , RI Gafni , Q Liu , P Huertas , G Khursigara , F Rutsch

J Bone Miner Res. 2021 Nov;36(11):2193-2202Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34355424/In brief: Generalised arterial calcification of infancy (GACI) is clinically and genetically a heterogeneous disorder caused by mutations in ENPP1or ABCC6 variants. This multicentre study identified early mortality risk in GACI patients despite atte...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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