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	141.	Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. [electronic resource] by Chadefaux, B Bonnefont, J P Rabier, D Shih, V E Saudubray, J M Kamoun, P Producer: 19890427 In: American journal of medical genetics vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	142.	Assessment of the mitochondrial respiratory chain. [electronic resource] by Rustin, P Chretien, D Bourgeron, T Wucher, A Saudubray, J M Rotig, A Munnich, A Producer: 19910729 In: Lancet (London, England) vol. 338 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	143.	Hereditary ornithine transcarbamylase deficiency. Report of two male cases with residual enzymatic activity. [electronic resource] by Saudubray, J M Cathelineau, L Laugier, J M Charpentier, C Lejeune, J A Mozziconacci, P Producer: 19751108 In: Acta paediatrica Scandinavica vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	144.	Characterization of enzymatic deficiencies of branched chain amino-acid catabolism in human fibroblasts by genetic complementation. [electronic resource] by Coudé, F X Grimber, G Parvy, P Pham Dinh, D Bardet, J Saudubray, J M Producer: 19830909 In: Biochemical and biophysical research communications vol. 114 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	145.	Acute and long-term management of infants with aminoacidopathies and organic acidurias. [electronic resource] by Saudubray, J M Ogier, H Charpentier, C Amedée-Manesme, O Coudé, F X Frézal, J Producer: 19830415 In: Progress in clinical and biological research vol. 103 Pt B Availability: No items available. Save to lists Add to cart (remove)
	146.	[Johanson-Blizzard's syndrome: another cause of pancreatic lipomatosis (author's transl)]. [electronic resource] by Bresson, J L Schmitz, J Saudubray, J M Lesec, G Hummel, J A Rey, J Producer: 19810424 In: Archives francaises de pediatrie vol. 37 Availability: No items available. Save to lists Add to cart (remove)
	147.	Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). [electronic resource] by Rötig, A Cormier, V Chatelain, P Francois, R Saudubray, J M Rustin, P Munnich, A Producer: 19930413 In: The Journal of clinical investigation vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	148.	The surgical management of congenital hyperinsulinemic hypoglycemia in infancy. [electronic resource] by Fékété, C Nihoul de Lonlay, P Jaubert, F Rahier, Jacques Brunelle, F Saudubray, J M Producer: 20040607 In: Journal of pediatric surgery vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	149.	Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects. [electronic resource] by Demaugre, F Bonnefont, J P Cepanec, C Scholte, J Saudubray, J M Leroux, J P Producer: 19900629 In: Pediatric research vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	150.	Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease. [electronic resource] by Mitchell, G Ogier, H Munnich, A Saudubray, J M Shirrer, J Charpentier, C Rocchiccioli, F Producer: 19861110 In: Neuropediatrics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	151.	Ion-exchange chromatography and clinical criteria in the screening of the aminoacidopathies. [electronic resource] by Parvy, P R Bardet, J I Rabier, D M Saudubray, J M Kamoun, P P Producer: 19881222 In: Clinica chimica acta; international journal of clinical chemistry vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	152.	Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts. [electronic resource] by Augereau, C Pham Dinh, D Moncion, A Marsac, C Saudubray, J M Robinson, B H Producer: 19870109 In: Journal of inherited metabolic disease vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	153.	[Partial deficiency of tetrahydrobiopterin]. [electronic resource] by Rey, F Saudubray, J M Leeming, R J Niederwieser, A Curtius, H C Rey, J Producer: 19830923 In: Archives francaises de pediatrie vol. 40 Suppl 1 Availability: No items available. Save to lists Add to cart (remove)
	154.	Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome). [electronic resource] by Rötig, A Cormier, V Chatelain, P Francois, R Saudubray, J M Rustin, P Munnich, A Producer: 19950817 In: Journal of inherited metabolic disease vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	155.	Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. [electronic resource] by Sedel, F Baumann, N Turpin, J-C Lyon-Caen, O Saudubray, J-M Cohen, D Producer: 20071025 In: Journal of inherited metabolic disease vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	156.	Clinical approach to inherited metabolic disorders in neonates. [electronic resource] by Saudubray, J M Narcy, C Lyonnet, L Bonnefont, J P Poll The, B T Munnich, A Producer: 19910212 In: Biology of the neonate vol. 58 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	157.	[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset]. [electronic resource] by Saudubray, J M Lyonnet, S Lombes, A Hervé, F Bonnefont, J P Munnich, A Ogier, H Producer: 19900618 In: Journal de genetique humaine vol. 37 Availability: No items available. Save to lists Add to cart (remove)
	158.	Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency. [electronic resource] by Stanley, C A Sunaryo, F Hale, D E Bonnefont, J P Demaugre, F Saudubray, J M Producer: 19921223 In: Journal of inherited metabolic disease vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	159.	Methylmalonic and propionic acidaemias: management and outcome. [electronic resource] by de Baulny, H Ogier Benoist, J F Rigal, O Touati, G Rabier, D Saudubray, J M Producer: 20050818 In: Journal of inherited metabolic disease vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	160.	Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase. [electronic resource] by ten Brink, H J Poll-The, B T Saudubray, J M Wanders, R J Jakobs, C Producer: 19920310 In: Journal of inherited metabolic disease vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 378 results.