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European Journal of Pediatrics|February 1, 1988
Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiencyJ L Dhondt, P Guibaud, M O Rolland, et al.Prenatal Diagnosis|August 19, 1999
Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutationsS Kure, M O Rolland, J Leisti, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|November 26, 2009
[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder]S Pierron, H Giudicelli, M Moreigne, et al.Journal of Inherited Metabolic Disease|January 1, 1994
Resistance to erucic acid as a selectable marker for peroxisomal activity: isolation of revertants of an infantile Refsum disease cell lineE Bachir Bioukar, F Straehli, K H Ng, et al.American Journal of Medical Genetics. Part A|November 10, 2005
Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same familyA L'herminé-Coulomb, F Beuzen, R Bouvier, et al.The Journal of Pediatrics|December 10, 1999
Primary hyperoxaluria in infants: medical, ethical, and economic issuesP Cochat, P C Koch Nogueira, M A Mahmoud, et al.Annales De Biologie Clinique|October 5, 2007
[Late diagnosis of a McArdle disease's case (type V glycogenosis)]S Flavier, M O Rolland, M Eude, et al.Neuropediatrics|October 12, 2005
Atypical MRI findings in Canavan disease: a patient with a mild courseC Yalcinkaya, G Benbir, G S Salomons, et al.Human Molecular Genetics|October 1, 1995
Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear familyN Nadal, M O Rolland, C Tranchant, et al.La Revue De Medecine Interne|November 22, 2005
[Severe hyperhomocysteinemia revealing homocystinuria in two young adults with mild phenotype]V Ducros, J Rousset, K Garambois, et al.Pageof 5