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	161.	Maple syrup urine disease: two different forms within a single family. [electronic resource] by Frézal, J Amédée-Manesme, O Mitchell, G Heuertz, S Rey, F Rey, J Saudubray, J M Producer: 19851017 In: Human genetics vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	162.	[Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form]. [electronic resource] by Bonnefont, J P Ogier, H Mitchell, G Demaugre, F Pelet, A Saudubray, J M Frezal, J Producer: 19860207 In: Archives francaises de pediatrie vol. 42 Suppl 1 Availability: No items available. Save to lists Add to cart (remove)
	163.	Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts. [electronic resource] by Poll-The, B T Billette de Villemeur, T Abitbol, M Dufier, J L Saudubray, J M Producer: 19920206 In: European journal of pediatrics vol. 151 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	164.	[Sudden infant death syndrome]. [electronic resource] by Cheron, G Rambaud, C Bonnefont, J P Rouzioux, C Lavaud, J Saudubray, J M Nezelof, C Producer: 19900425 In: Annales de pediatrie vol. 37 Availability: No items available. Save to lists Add to cart (remove)
	165.	The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probe. [electronic resource] by Robinson, B H Oei, J Saudubray, J M Marsac, C Bartlett, K Quan, F Gravel, R Producer: 19870310 In: American journal of human genetics vol. 40 Availability: No items available. Save to lists Add to cart (remove)
	166.	Defective biotin absorption in multiple carboxylase deficiency. [electronic resource] by Munnich, A Saudubray, J M Carré, G Coudé, F X Ogier, H Charpentier, C Frézal, J Producer: 19810922 In: Lancet (London, England) vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	167.	Biotin dependent carboxylase activities in normal human and multicarboxylase deficient patient fibroblasts: relationship to the biotin content of the culture medium. [electronic resource] by Marsac, C Gaudry, M Augereau, C Moncion, A Saudubray, J M Coudé, F X Munnich, A Producer: 19830708 In: Clinica chimica acta; international journal of clinical chemistry vol. 129 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	168.	An extracorporeal hollow-fiber reactor for phenylketonuria using immobilized phenylalanine ammonia lyase. [electronic resource] by Larue, C Munnich, A Charpentier, C Saudubray, J M Frézal, J Rémy, M H Rivat, C Producer: 19860506 In: Developmental pharmacology and therapeutics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	169.	[Lactic acidosis, hypoglycemia and hepatomegaly due to hereditary defect in hepatic fructose-1, 6-diphosphatase]. [electronic resource] by Saudubray, J M Dreyfus, J C Cepanec, C Le Lo'ch, H Trung, P H Mozziconacci, P Producer: 19750606 In: Archives francaises de pediatrie vol. 30 Availability: No items available. Save to lists Add to cart (remove)
	170.	Peroxisomal disorders: a review. [electronic resource] by Fournier, B Smeitink, J A Dorland, L Berger, R Saudubray, J M Poll-The, B T Producer: 19941228 In: Journal of inherited metabolic disease vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	171.	Leukoencephalopathies associated with inborn errors of metabolism in adults. [electronic resource] by Sedel, F Tourbah, A Fontaine, B Lubetzki, C Baumann, N Saudubray, J-M Lyon-Caen, O Producer: 20080909 In: Journal of inherited metabolic disease vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	172.	Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders. [electronic resource] by Poll-The, B T Skjeldal, O H Stokke, O Poulos, A Demaugre, F Saudubray, J M Producer: 19890306 In: Human genetics vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	173.	[Associated forms of hereditary chorioretinal degeneration]. [electronic resource] by Manderieux, N Dufier, J L Kaplan, J Aicardi, J Saudubray, J M Leowski, C Frezal, J Producer: 19900920 In: Ophtalmologie : organe de la Societe francaise d'ophtalmologie vol. 3 Availability: No items available. Save to lists Add to cart (remove)
	174.	[Neonatal adrenoleukodystrophy. Apropos of 3 cases in siblings]. [electronic resource] by Sarda, H Henry, V Le Loc'h, H Aubourg, P Poll-The, B T Saudubray, J M Producer: 19890728 In: Annales de pediatrie vol. 36 Availability: No items available. Save to lists Add to cart (remove)
	175.	Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. [electronic resource] by Rotig, A Colonna, M Bonnefont, J P Blanche, S Fischer, A Saudubray, J M Munnich, A Producer: 19890524 In: Lancet (London, England) vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	176.	Congenital anomalies in glutaric aciduria type 2. [electronic resource] by Mitchell, G Saudubray, J M Gubler, M C Habib, R Ogier, H Frezal, J Boue, J Producer: 19840709 In: The Journal of pediatrics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	177.	Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. [electronic resource] by Saudubray, J M Coudé, F X Demaugre, F Johnson, C Gibson, K M Nyhan, W L Producer: 19830119 In: Pediatric research vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	178.	Neonatal hyperinsulinemic hypoglycemia: heterogeneity of the syndrome and keys for differential diagnosis. [electronic resource] by Sempoux, C Guiot, Y Lefevre, A Nihoul-Fékété, C Jaubert, F Saudubray, J M Rahier, J Producer: 19980604 In: The Journal of clinical endocrinology and metabolism vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	179.	Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease. [electronic resource] by Jouvet, P Jugie, M Rabier, D Desgrès, J Hubert, P Saudubray, J M Man, N K Producer: 20020328 In: Intensive care medicine vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	180.	[Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome]. [electronic resource] by Vabres, P Sevin, C Amoric, J C Odièvre, M H Saudubray, J M de Prost, Y Producer: 19981221 In: Annales de dermatologie et de venereologie vol. 125 Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 378 results.