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Page 1
Acute cortical deafness in a child with MELAS syndrome.
Pittet MP, Idan RB, Kern I, Guinand N, Van HC, Toso S, Fluss J. Pittet MP, et al. Among authors: kern i. J Inherit Metab Dis. 2016 May;39(3):465-466. doi: 10.1007/s10545-016-9929-x. Epub 2016 Apr 7. J Inherit Metab Dis. 2016. PMID: 27056553 Free PMC article.
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.
Varvagiannis K, Hanquinet S, Billieux MH, De Luca R, Rimensberger P, Lidgren M, Guipponi M, Makrythanasis P, Blouin JL, Antonarakis SE, Steinfeld R, Kern I, Poretti A, Fluss J, Fokstuen S. Varvagiannis K, et al. Among authors: kern i. Neuropediatrics. 2018 Apr;49(2):150-153. doi: 10.1055/s-0037-1613681. Epub 2017 Dec 28. Neuropediatrics. 2018. PMID: 29284168
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
François-Heude MC, Lebigot E, Roze E, Warde MTA, Cances C, Damaj L, Espil C, Fluss J, de Lonlay P, Kern I, Lenaers G, Munnich A, Meyer P, Spitz MA, Torre S, Doummar D, Touati G, Leboucq N, Roubertie A. François-Heude MC, et al. Among authors: kern i. Eur J Neurol. 2022 Nov;29(11):3229-3242. doi: 10.1111/ene.15515. Epub 2022 Aug 9. Eur J Neurol. 2022. PMID: 36200804 Free article.
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Ansar M, Ranza E, Shetty M, Paracha SA, Azam M, Kern I, Iwaszkiewicz J, Farooq O, Pournaras CJ, Malcles A, Kecik M, Rivolta C, Muzaffar W, Qurban A, Ali L, Aggoun Y, Santoni FA, Makrythanasis P, Ahmed J, Qamar R, Sarwar MT, Henry LK, Antonarakis SE. Ansar M, et al. Among authors: kern i. Hum Mol Genet. 2020 Mar 13;29(4):618-623. doi: 10.1093/hmg/ddz303. Hum Mol Genet. 2020. PMID: 31903486 Free PMC article.
[New therapies for children affected by bone diseases].
Ballhausen D, Dépraz NG, Kern I, Unger S, Bonafé L. Ballhausen D, et al. Among authors: kern i. Rev Med Suisse. 2012 Feb 22;8(329):398-402. Rev Med Suisse. 2012. PMID: 22432239 French.
193 results