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Pediatrie|April 1, 1984
[Pyridoxine-dependent convulsions : familial case]B Lauras, B Drevon, M O Rolland, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|November 15, 1996
Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiencyM Fontaine, G Briand, N Ser, et al.Pediatric Research|August 1, 1990
Comparison of red cell transfusion and polyethylene glycol-modified adenosine deaminase therapy in an adenosine deaminase-deficient child: measurement of erythrocyte deoxyadenosine triphosphate as a useful toolC Bory, R Boulieu, G Souillet, et al.Acta Paediatrica (Oslo, Norway : 1992)|August 7, 2002
An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduriaL Nimubona, D Laloum, M O Rolland, et al.La Semaine Des Hopitaux : Organe Fonde Par L'Association D'Enseignement Medical Des Hopitaux De Paris|June 3, 1982
[Partial monosomy 20q : a new syndrome. Regional assignment of the ADA locus on 20q132 (author's transl)]J Fraisse, M F Bertheas, F Frère, et al.Rheumatology (Oxford, England)|September 7, 2007
Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndromeW Ammouri, L Cuisset, S Rouaghe, et al.Advances in Experimental Medicine and Biology|September 29, 1999
Common resistance mechanisms to nucleoside analogues in variants of the human erythroleukemic line K562C Dumontet, E C Bauchu, K Fabianowska, et al.La Revue De Medecine Interne|January 28, 2004
[Delayed diagnosis of homocystinuria by major deficiency in cystathionine beta synthase]M-D Tur, E De Maistre, P Franck, et al.Prenatal Diagnosis|May 23, 2000
Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnosesD A Applegarth, J R Toone, M O Rolland, et al.Pediatrie|January 1, 1989
[Biotidinase deficiency: a disease with neurologic and cutaneous expression susceptible to biotin]L de Parscau, B Beaufrère, C Vianey-Liaud, et al.Pageof 5