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Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M. Schlingmann KP, et al. Among authors: cornelissen ea. J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5. J Am Soc Nephrol. 2016. PMID: 26047794 Free PMC article.
Neurocognitive functioning in school-aged cystinosis patients.
Besouw MT, Hulstijn-Dirkmaat GM, van der Rijken RE, Cornelissen EA, van Dael CM, Vande Walle J, Lilien MR, Levtchenko EN. Besouw MT, et al. Among authors: cornelissen ea. J Inherit Metab Dis. 2010 Dec;33(6):787-93. doi: 10.1007/s10545-010-9182-7. Epub 2010 Sep 3. J Inherit Metab Dis. 2010. PMID: 20814825 Free PMC article. Clinical Trial.
A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations.
Bongers EMHF, Shelton LM, Milatz S, Verkaart S, Bech AP, Schoots J, Cornelissen EAM, Bleich M, Hoenderop JGJ, Wetzels JFM, Lugtenberg D, Nijenhuis T. Bongers EMHF, et al. J Am Soc Nephrol. 2017 Oct;28(10):3118-3128. doi: 10.1681/ASN.2016080881. Epub 2017 Jul 3. J Am Soc Nephrol. 2017. PMID: 28674042 Free PMC article.
Copper deficiency in patients with cystinosis with cysteamine toxicity.
Besouw MT, Schneider J, Janssen MC, Greco M, Emma F, Cornelissen EA, Desmet K, Skovby F, Nobili F, Lilien MR, De Paepe A, Malfait F, Symoens S, van den Heuvel LP, Levtchenko EN. Besouw MT, et al. Among authors: cornelissen ea. J Pediatr. 2013 Sep;163(3):754-60. doi: 10.1016/j.jpeds.2013.03.078. Epub 2013 May 4. J Pediatr. 2013. PMID: 23651769
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis.
Elmonem MA, Makar SH, van den Heuvel L, Abdelaziz H, Abdelrahman SM, Bossuyt X, Janssen MC, Cornelissen EA, Lefeber DJ, Joosten LA, Nabhan MM, Arcolino FO, Hassan FA, Gaide Chevronnay HP, Soliman NA, Levtchenko E. Elmonem MA, et al. Among authors: cornelissen ea. Orphanet J Rare Dis. 2014 Nov 19;9:155. doi: 10.1186/s13023-014-0155-z. Orphanet J Rare Dis. 2014. PMID: 25407738 Free PMC article.
Enhanced Intrinsic Skin Aging in Nephropathic Cystinosis Assessed by High-Definition Optical Coherence Tomography.
Veys KRP, Elmonem MA, Dhaenens F, Van Dyck M, Janssen MMCH, Cornelissen EAM, Hohenfellner K, Reda A, Quatresooz P, van den Heuvel B, Boone MALM, Levtchenko E. Veys KRP, et al. J Invest Dermatol. 2019 Oct;139(10):2242-2245.e5. doi: 10.1016/j.jid.2019.03.1153. Epub 2019 Apr 22. J Invest Dermatol. 2019. PMID: 31022388 Free article. No abstract available.
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