The Journal of Pediatrics) ; pp 121-124 Therapeutic approaches to cobaiamin C methylmalonic acidemia and homocystinuria, The Journal of Pediatrics, vol.132, issue.1121, pp.32-39, 1988. ,
EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria, Biology of the Neonate, vol.78, issue.4, pp.327-330, 2000. ,
Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinwia, European Journal of Pediatrics, issue.1 1, pp.15-16, 1992. ,
Early-onset Cobalamin C D deficiency : epilepsy and electroencephalographic features, Epilepsia, issue.6, pp.43-616, 2002. ,
Cobalamin C/D deficiency : clinical, neurophysiological and neuroradiologic findings in 14 cases, Neuropediatrics, issue.1, p.32, 2001. ,
Aduit-onset rnnhilv?d-metbvlq slouir-~~iCi11+s 2nd Er\nincvyh'nua'allChl--r~--. N~iarnlorur.-?nQl -!6---q neurophysiological and neuroradiologic findings in 14 cases, Neuropediatrics, issue.1, p.32, 2001. ,
Aduit-onset combined methylrnalonic aciduria and homocystinuria (Cbl C), Neurology, vol.11, pp.56-69, 2001. ,
Creatine metabolism in combined methylmalonic aciduria and homocystinuria, Ann Neurol, vol.57, issue.4, pp.557-560, 2005. ,
Cor pulmonaie as a complication of methylmalonic academia and homocystinuria ( Cbl -C type ) ,
Tietz Textbook of Clinical Chernistry, p.910, 2000. ,
Pharrnacothérapie des erreurs innées du métabolisme ; Pharmachiel, pp.247-255, 2004. ,
Comparison of the deoxyuridine suppression test with serum levels of methylmalonic acid and homocysteine in mild cobalarnin deficiency, British Journal of Haematology, vol.3, issue.2, pp.93-94, 1996. ,
Syndrome hémolytique et urémique néonatal, acidurie méthylmalonique et homocystinurie par déficit intracellulaire de la vitamine B 12, pp.762-764, 1994. ,
Facial anomalies in combined methylmalonic aciduria and homocystinuria, Am J Med Genet, vol.86, issue.2, pp.124-129, 1999. ,
Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin C or D mutant), pp.14-17, 1994. ,
syndrome hémolytique et urémique néonatal, acidurie méthylmalonique et homocystinurie par déficit intracellulaire de la vitamine B 12 ; Archives Françaises de Pédiatrie, 1993. ,
Epileptiform ocular movements with methylmalonic aciduria and homocystinuria, American Journal of Ophthalmology, vol.90, issue.2, pp.1-253, 1980. ,
The association of protein-losing enteropathy with cobalamin C defect, Journal of b~eBaeci.M&g~l;/vD, vol.321, issue.5, p.31 ,
The association of protein-losing enteropathy with cobalamin C defect, Journal of Inherited Metabolic Diseases, vol.21, issue.1, pp.17-22, 1998. ,
Progressive neurological deterioration and MM changes in Cbl C methylmalonic acidemia treated with hydroxocobalamin, Journal of Inherited Metabolic Diseases, issue.5, p.22, 1999. ,
Inherited disorders of cobalamin transport and metabolism. Ln : The Metabolic and Molecular Bases of Inherited Disease, sous la direction de, pp.4605-129, 1995. ,
An infant with methylmalonic aciduria and homocystinuria (Cbl C) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury, European Journal of Pediatrics, issue.7, pp.163-420, 2004. ,
Methionine auxotrophy in inbom errors of cobalamin metabolism, Clinical and Investigative Medicine, pp.395-400, 1992. ,
The incidence of alkaptonuria : a study in chernical individuality ; The Lancet, 1902. ,
Cobalamin C defect associated with haemolytic-uremic syndrome ; The Joumal of Pediatrics, pp.120-934, 1992. ,
Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset, J Neurol Neurosurg Psychiatry, vol.60, issue.1, 1996. ,
Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism, Proceedings of the National Academy of Sciences of the USA, pp.72-90, 1975. ,
Potential misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (Cbl C) in the neonate, Journal of Perinatology, issue.5, pp.23-384, 2003. ,
Potential misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduriahyperhomocysteinemia (Cbl C) in the neonate, Journal of Perinatology, vol.23, issue.5, pp.384-386, 2003. ,
Ventricular septal defect closure in a neonate with combined methylmalonic aciduriahomocystinuria, Annals of Thoracic Surgery, vol.72, issue.4, pp.1-1392, 2001. ,
Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations, Archives of Dermatology, issue.1 2, pp.133-1563, 1997. ,
Vitamin B12 in health and disease : part 1 -inherited disorders of function, absorption and transport, Gastroenterologist, vol.3, issue.4, pp.329-344, 1995. ,
Les vitamines, données biochimiques, nutritionnelles et cliniques, p.2, 1995. ,
A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria, Am J Med, vol.48, pp.390-397, 1970. ,
On vitamin B 12 forms in human plasma ,
Homocystinuria, arteriosclerosis, methylmalonic aciduria, and methyltransferase deficiency : a key case revisited, Nutr Rev, issue.5, pp.50-155, 1992. ,
A cobalarnin defect with homocystinuria, methylmalonic aciduria and macrocytic anemia, Neuropediatrics, issue.2, pp.17-94, 1986. ,
Acidurie méthylmalonique avec homocystinurie : revue de 21 cas, Th. Grenoble, vol.97, issue.5, p.142, 1990. ,
Cobalamin binding and cobaiamin-dependent enzyme activity in normal and mutant human fibroblasts, J Clin Invest, vol.62, pp.952-960, 1978. ,
Reliability of biochemical parameters used in prenatal diagnosis of combined methylmaionic aciduria and hnmnrvctiniirisi, pp.47-053 ,
Reliability of biochemical parameters used in prenatal diagnosis of combined methylmaionic aciduria and homocystinuria, pp.947-952, 1998. ,
Urgences métaboliques néonatales ,
10 (supp ; 1), pp.40-42, 2003. ,
Clinical heterogeneity in cobalarnin C variant of combined hornocystinuria and methylmalonic aciduria, The Journal of Pediatrics, issue.3, pp.108-410, 1986. ,
In : Traité de Nutrition Pddiatrique, sous la direction de, p.120, 1995. ,
Free amino acids in amniotic fluid and the prenatal diagnosis of homocystinuria with methylmalonic aciduria, Clinical Chemistry, issue.11, p.41, 1995. ,
Optic atrophy in association with cobalamin C disease, Ophthaimic Genetics, vol.21, issue.15, pp.1-1, 2000. ,
Maladies héréditaires du métabolisme à révélation néonatale, Encycl Méd Chir, pp.4-049, 1997. ,
Neurological and neuropaihologic heterogeneity in two brothers with cobalamin C deficiency, Annals of Neurology, issue.3, pp.49-396, 2001. ,
Disorders of propionate and methylmalonate metabolism In : The Metabolic and Molecular Bases of Inherited Disease, pp.821-844, 1989. ,
Clinical heterogeneity and prognosis in combined methylrnalonic aciduria and homocystinuria (CblC), Journal of Inherited Metabolic Diseases, vol.20, issue.4, pp.528-538, 1997. ,
Altered vitamin BI2 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesisROScr-A ,rFRClbLF P. &IxAhrCH~P.TJE,VGAITT~~P ~aC/;&IUB'PIGah 'G' QP5IP megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis, The Journal of Clinical Investigations The Journal of Clinical Investigations, vol.57, issue.66, pp.74-149, 1984. ,
Early-onset combined methylmalonic aciduria and homocystinuria : neuroradiologic findings, American Journal of Neuroradiology, issue.3, pp.22-554, 2001. ,
Neuropsychiatrie disturbances in presurned late-onset cobalamin C disease, Archives of Neurology, issue.10, pp.60-1457, 2003. ,
A congenital anomaly of vitamin B12 metabolism : a study of three cases, Human Pathology, issue.5, p.23, 1992. ,
Acidurie méthylmalonique avec homocystinurie ; ORPHANET, mars 2004. (article sur internet) Inserm SC 1 1. 102, rue Didot, pp.7501-7505 ,
Clinical approach to inherited metabolic disorders in neonates : an overview ; Semin, Neonatal, vol.7, issue.1, pp.3-15, 2002. ,
Practical management of combined methylmalonic aciduria and homocystinuria, Journal of Child Neurology, vol.17, issue.5, pp.353-356, 2002. ,
Liver B 12 in subjects with and without vitamin B 12 deficiency -a quantitative and qualitative study, Scand J Haematol, issue.4, p.312, 1967. ,
Nondetectable electroretinograrn in combined methylmalonic aciduria and homocystinuria, Ann Ophtalmol, vol.24, issue.5, pp.180-181, 1992. ,
Cbl C/D defect combined with haemodynamically highly relevant VSD, Journal of Inherited Metabolic Diseases, vol.20024, issue.5, pp.1-1 ,
Ocular histopathologic characteristics of cobalamin C type vitamin B 12 defect with methylrnalonic aciduria and homocystinuria, American Journal of Ophthalomology, issue.3, pp.1-13, 1992. ,
Aciduria metilmal??nica con homocistinuria de inicio neonatal: mejor??a bioqu??mica y cl??nica con beta??na, Anales de Pediatr??a, vol.56, issue.4, pp.337-341, 2002. ,
DOI : 10.1016/S1695-4033(02)77813-2
Aciduria metilmal??nica con homocistinuria de inicio neonatal: mejor??a bioqu??mica y cl??nica con beta??na, Anales de Pediatr??a, vol.56, issue.4, pp.337-341, 2002. ,
DOI : 10.1016/S1695-4033(02)77813-2
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy, American Journal of Medical Genetics, vol.1, issue.2, pp.1-1, 2002. ,
Cubiline : rôle physiopathologique et relations avec la mégaline ; médecine/sciences, pp.337-343, 2003. ,
Neurological dysfunction in methylmalonic academia is probably related to the inhibitory effect of methylmalonate on brain energy production, J Inher Metab Dis, vol.20, pp.1-768, 1997. ,
Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity : reduced affinity of mutant apoenzyme for adenosylcobalamin, Biochem Biophys Res Commun, vol.78, pp.927-934, 1977. ,
Inborn errors of cobalamin metabolisna : effect of cobalamin supplementation in culture on methylmalonyl CoA mutase activity in normal and mutant human fibroblasts, Biochemical Genetics, vol.17, issue.12, pp.57-75, 1979. ,
Manifestations h??matologiques des anomalies cong??nitales des folates et des cobalamines, Revue Fran??aise des Laboratoires, vol.1998, issue.303, pp.45-48, 1998. ,
DOI : 10.1016/S0338-9898(98)80067-X
pages, Médecine Sciences, pp.1450-66, 1992. ,