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pro vyhledávání: '"Growth and Development/drug effects"'
Autor:
Eric Haÿ, Martine Cohen-Solal, Silvia Lecci, Andrea Superti-Furga, Luca Monti, Fabio De Leonardis, Antonio Rossi, Antonella Forlino, Simona Villani, Ruggero Tenni, Chiara Paganini
Publikováno v:
Human Molecular Genetics, vol. 24, no. 19, pp. 5570-5580
Diastrophic dysplasia (DTD) is a recessive chondrodysplasia caused by mutations in SLC26A2, a cell membrane sulfate-chloride antiporter. Sulfate uptake impairment results in low cytosolic sulfate, leading to cartilage proteoglycan (PG) undersulfation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8069b6c3c98c2d23f87ef2b9eaf960b7
https://doi.org/10.1093/hmg/ddv289
https://doi.org/10.1093/hmg/ddv289
BACKGROUND: Clinical studies have demonstrated that premature infants receiving long-term dexamethasone therapy have reduced linear growth, decreased weight gain, and smaller head circumferences. The purpose of the present study was to investigate th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3566::441939f6b4cc66b3e39a96ab84bce0bf
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