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Author/Creator Le Quan Sang, Kim-Hanh

1. Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial. Issue 9 (September 2020)

Authors:
Ranganath, Lakshminarayan R; Psarelli, Eftychia Eirini; Arnoux, Jean-Baptiste; Braconi, Daniela; Briggs, Michael; Bröijersén, Anders; Loftus, Nadia; Bygott, Helen; Cox, Trevor F; Davison, Andrew S; Dillon, Jane P; Fisher, Michael; FitzGerald, Richard; Genovese, Federica; Glasova, Helena; Hall, An...
Journal:
Lancet
Issue:
Volume 8:Issue 9(2020)
Page Start:
762
Record Type:
Journal Article
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2. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. Issue 2 (30th July 2009)

Authors:
Cavalcanti, Denise P; Huber, Celine; Le Quan Sang, Kim-Hanh; Baujat, Geneviève; Collins, Felicity; Delezoide, Anne-Lise; Dagoneau, Nathalie; Le Merrer, Martine; Martinovic, Jelena; Mello, Marcos Fernando S; Vekemans, Michel; Munnich, Arnold; Cormier-Daire, Valerie
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 2(2011)
Page Start:
88
Record Type:
Journal Article
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3. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. Issue 10 (11th July 2013)

Authors:
Bannwarth, Sylvie; Procaccio, Vincent; Lebre, Anne Sophie; Jardel, Claude; Chaussenot, Annabelle; Hoarau, Claire; Maoulida, Hassani; Charrier, Nathanaël; Gai, Xiaowu; Xie, Hongbo M; Ferre, Marc; Fragaki, Konstantina; Hardy, Gaëlle; Mousson de Camaret, Bénédicte; Marlin, Sandrine; Dhaenens, Claire...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 10(2013)
Page Start:
704
Record Type:
Journal Article
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4. Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment. Issue 2 (4th December 2014)

Authors:
Ranganath, Lakshminarayan R; Milan, Anna M; Hughes, Andrew T; Dutton, John J; Fitzgerald, Richard; Briggs, Michael C; Bygott, Helen; Psarelli, Eftychia E; Cox, Trevor F; Gallagher, James A; Jarvis, Jonathan C; van Kan, Christa; Hall, Anthony K; Laan, Dinny; Olsson, Birgitta; Szamosi, Johan; Rudeb...
Journal:
Annals of the rheumatic diseases
Issue:
Volume 75:Issue 2(2016)
Page Start:
362
Record Type:
Journal Article
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5. Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study. Issue 1 (December 2017)

Authors:
Jones, Simon; Rojas-Caro, Sandra; Quinn, Anthony; Friedman, Mark; Marulkar, Sachin; Ezgu, Fatih; Zaki, Osama; Gargus, J.; Hughes, Joanne; Plantaz, Dominique; Vara, Roshni; Eckert, Stephen; Arnoux, Jean-Baptiste; Brassier, Anais; Le Quan Sang, Kim-Hanh; Valayannopoulos, Vassili
Journal:
Orphanet journal of rare diseases
Issue:
Volume 12:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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