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Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
Vianey-Saban C, Acquaviva C, Cheillan D, Collardeau-Frachon S, Guibaud L, Pagan C, Pettazzoni M, Piraud M, Lamazière A, Froissart R. Vianey-Saban C, et al. Among authors: guibaud l. J Inherit Metab Dis. 2016 Sep;39(5):611-624. doi: 10.1007/s10545-016-9947-8. Epub 2016 Jul 8. J Inherit Metab Dis. 2016. PMID: 27393412 Review.
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
Lion-François L, Cheillan D, Pitelet G, Acquaviva-Bourdain C, Bussy G, Cotton F, Guibaud L, Gérard D, Rivier C, Vianey-Saban C, Jakobs C, Salomons GS, des Portes V. Lion-François L, et al. Among authors: guibaud l. Neurology. 2006 Nov 14;67(9):1713-4. doi: 10.1212/01.wnl.0000239153.39710.81. Neurology. 2006. PMID: 17101918 No abstract available.
Prenatal diagnosis of osteopathia striata with cranial sclerosis.
Vasiljevic A, Azzi C, Lacalm A, Combourieu D, Collardeau-Frachon S, Dijoud F, Massardier J, Van Hul W, Fromageoux C, Guibaud L, Gaucherand P, Cordier MP, Massoud M. Vasiljevic A, et al. Among authors: guibaud l. Prenat Diagn. 2015 Mar;35(3):302-4. doi: 10.1002/pd.4513. Epub 2014 Nov 26. Prenat Diagn. 2015. PMID: 25284440 No abstract available.
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
Alby C, Boutaud L, Bonnière M, Collardeau-Frachon S, Guibaud L, Lopez E, Bruel AL, Aral B, Sonigo P, Roth P, Vibert-Guigue C, Castaigne V, Carbonne B, Joyé N, Faivre L, Cordier MP, Bernabe Gelot A, Clementi M, Mammi I, Vekemans M, Razavi F, Gonzales M, Thauvin-Robinet C, Attié-Bitach T. Alby C, et al. Among authors: guibaud l. Birth Defects Res. 2018 Mar 1;110(4):382-389. doi: 10.1002/bdr2.1154. Epub 2017 Nov 28. Birth Defects Res. 2018. PMID: 29193896
Prenatal imaging features suggestive of liver gestational allo immune disease.
Sciard C, Collardeau-Frachon S, Atallah A, Combourieu D, Massardier J, Heissat S, Gaucherand P, Guibaud L, Massoud M. Sciard C, et al. Among authors: guibaud l. J Gynecol Obstet Hum Reprod. 2019 Jan;48(1):61-64. doi: 10.1016/j.jogoh.2018.11.005. Epub 2018 Nov 19. J Gynecol Obstet Hum Reprod. 2019. PMID: 30465890
191 results