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Page 1
Inherited epithelial transporter disorders--an overview.
Bergeron MJ, Simonin A, Bürzle M, Hediger MA. Bergeron MJ, et al. Among authors: simonin a. J Inherit Metab Dis. 2008 Apr;31(2):178-87. doi: 10.1007/s10545-008-0861-6. Epub 2008 Apr 14. J Inherit Metab Dis. 2008. PMID: 18415698 Free article. Review.
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, Yaacov B, Neidich J, Al-Ashhab M, Juusola J, Bale S, Telegrafi A, Retterer K, Pappas JG, Moran E, Cappell J, Anyane Yeboa K, Abu-Libdeh B, Hediger MA, Chung WK, Elpeleg O, Edvardson S. Damseh N, et al. Among authors: simonin a. J Med Genet. 2015 Aug;52(8):541-7. doi: 10.1136/jmedgenet-2015-103104. Epub 2015 Jun 3. J Med Genet. 2015. PMID: 26041762
Mammalian iron transporters: families SLC11 and SLC40.
Montalbetti N, Simonin A, Kovacs G, Hediger MA. Montalbetti N, et al. Among authors: simonin a. Mol Aspects Med. 2013 Apr-Jun;34(2-3):270-87. doi: 10.1016/j.mam.2013.01.002. Mol Aspects Med. 2013. PMID: 23506870 Review.
Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.
Dhayat N, Simonin A, Anderegg M, Pathare G, Lüscher BP, Deisl C, Albano G, Mordasini D, Hediger MA, Surbek DV, Vogt B, Sass JO, Kloeckener-Gruissem B, Fuster DG. Dhayat N, et al. Among authors: simonin a. J Am Soc Nephrol. 2016 May;27(5):1426-36. doi: 10.1681/ASN.2015040411. Epub 2015 Sep 16. J Am Soc Nephrol. 2016. PMID: 26376857 Free PMC article.
76 results