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American Journal of Medical Genetics. Part A|May 17, 2007
Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndromeA L Mosca, P Callier, B Leheup, et al.
Clinical Genetics|July 26, 2017
Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defectsR M Guéant-Rodriguez, C Chery, B-M Caillierez-Fofou, et al.
European Journal of Clinical Nutrition|March 9, 2006
Randomised controlled trial of essential fatty acid supplementation in phenylketonuriaM A Cleary, F Feillet, F J White, et al.
The Journal of Clinical Investigation|July 7, 1999
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblastsV Procaccio, B Mousson, R Beugnot, et al.
Molecular Genetics and Metabolism|September 11, 2013
Main issues in micronutrient supplementation in phenylketonuriaA M Lammardo, M Robert, J C Rocha, et al.
Molecular Genetics and Metabolism|October 12, 2013
Micronutrient status in phenylketonuriaM Robert, J C Rocha, M van Rijn, et al.
Journal of Inherited Metabolic Disease|September 12, 2007
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening studyB K Burton, D K Grange, A Milanowski, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 27, 2018
Nutritional management of cow's milk allergy in children: An updateC Dupont, J-P Chouraqui, A Linglart, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|April 14, 2019
Efficacy and safety of hydrolyzed rice-protein formulas for the treatment of cow's milk protein allergyA Bocquet, C Dupont, J-P Chouraqui, et al.
Biochimica Et Biophysica Acta|February 14, 2012
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndromeZ Assouline, M Jambou, M Rio, et al.
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