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Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country.
Utari A, Faradz SMH, Ediati A, Rinne T, Ariani MD, Juniarto AZ, Drop SLS, van Herwaarden AE, Claahsen-van der Grinten HL. Utari A, et al. Front Endocrinol (Lausanne). 2022 Dec 15;13:1015973. doi: 10.3389/fendo.2022.1015973. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36589846 Free PMC article.
Perinatal rupture of the uropoietic system.
Claahsen-van der Grinten HL, Monnens LA, de Gier RP, Feitz WF. Claahsen-van der Grinten HL, et al. Clin Nephrol. 2002 Jun;57(6):432-8. doi: 10.5414/cnp57432. Clin Nephrol. 2002. PMID: 12078946
[Neonates with pseudohypoaldosteronism].
Kleizen KJ, Claahsen-van der Grinten HL, Schulte EO, Creemers DG, Koster-Kamphuis L, Draaisma JM. Kleizen KJ, et al. Ned Tijdschr Geneeskd. 2010;154:A1485. Ned Tijdschr Geneeskd. 2010. PMID: 20735869 Dutch. No abstract available.
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA. Jansen S, et al. Eur J Hum Genet. 2018 Jan;26(1):54-63. doi: 10.1038/s41431-017-0039-5. Epub 2017 Dec 5. Eur J Hum Genet. 2018. PMID: 29209020 Free PMC article.
Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop.
Sanders C, Hall J, Sanders C, Dessens A, Bryce J, Callens N, Cools M, Kourime M, Kyriakou A, Springer A, Audi L, Balsamo A, Iotova V, Mladenov V, Krawczynski M, Nordenskjöld A, Rozas M, Claahsen-van der Grinten H, Hiort O, Riedl S, Ahmed SF. Sanders C, et al. Sex Dev. 2018;12(5):225-231. doi: 10.1159/000490081. Epub 2018 Jun 23. Sex Dev. 2018. PMID: 29936513 Free article. Review.
118 results