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	101.	A new case of methylmalonic aciduria with unexplained negative urinary methylmalonic colorimetric test. [electronic resource] by Charpentier, C Coude, M Perignon, J L Lombes, A Saudubray, J M Divry, P Producer: 19870427 In: Journal of inherited metabolic disease vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	Attempt at therapy in sulphite oxidase deficiency. [electronic resource] by Tardy, P Parvy, P Charpentier, C Bonnefont, J P Saudubray, J M Kamoun, P Producer: 19890822 In: Journal of inherited metabolic disease vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	Complementation analysis of peroxisomal disorders and classical Refsum. [electronic resource] by Poll-The, B T Skjeldal, O H Stokke, O Demaugre, F Saudubray, J M Producer: 19900517 In: Progress in clinical and biological research vol. 321 Availability: No items available. Save to lists Add to cart (remove)
	104.	Prenatal diagnosis of methylmalonic aciduria. [electronic resource] by Gompertz, D Goodey, P A Saudubray, J M Charpentier, C Chignolle, A Girard, S Producer: 19741219 In: Pediatrics vol. 54 Availability: No items available. Save to lists Add to cart (remove)
	105.	[Isovaleric acidemia. Study and treatment in 3 brothers]. [electronic resource] by Saudubray, J M Sorin, M Depondt, E Herouin, C Charpentier, C Pousset, J L Producer: 19761230 In: Archives francaises de pediatrie vol. 33 Availability: No items available. Save to lists Add to cart (remove)
	106.	[Painful disseminated fibromatosis (systemic hyalinosis): a new hereditary collagen dysplasia]. [electronic resource] by Nézelof, C Letourneux-Toromanoff, B Griscelli, C Girot, R Saudubray, J M Mozziconacci, P Producer: 19790611 In: Archives francaises de pediatrie vol. 35 Availability: No items available. Save to lists Add to cart (remove)
	107.	Occurrence of hyperammonemia in the course of 17 cases of methylmalonic acidemia. [electronic resource] by Cathelineau, L Briand, P Ogier, H Charpentier, C Coude, F X Saudubray, J M Producer: 19810925 In: The Journal of pediatrics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	Human liver pathology in peroxisomal diseases: a review including novel data. [electronic resource] by Roels, F Espeel, M Poggi, F Mandel, H van Maldergem, L Saudubray, J M Producer: 19930709 In: Biochimie vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings. [electronic resource] by Saudubray, J M Marsac, C Cathelineau, C L Besson Leaud, M Leroux, J P Producer: 19770125 In: Acta paediatrica Scandinavica vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia. [electronic resource] by Sedel, F Ribeiro, M J Remy, P Blau, N Saudubray, J-M Agid, Y Producer: 20070116 In: Neurology vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency. [electronic resource] by Coude, F X Ogier, H Marsac, C Munnich, A Charpentier, C Saudubray, J M Producer: 19820313 In: Pediatrics vol. 68 Availability: No items available. Save to lists Add to cart (remove)
	112.	Hyperammonemia secondary to hereditary organic acidurias: a study of 29 cases. [electronic resource] by Saudubray, J M Coudé, F X Ogier, H Cathelineau, L Briand, P Charpentier, C Producer: 19830407 In: Advances in experimental medicine and biology vol. 153 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. [electronic resource] by Kamijo, T Wanders, R J Saudubray, J M Aoyama, T Komiyama, A Hashimoto, T Producer: 19940520 In: The Journal of clinical investigation vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	114.	Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis. [electronic resource] by Coude, M Bonnefont, J P Charpentier, C Chadefaux, B Saudubray, J M Kamoun, P Producer: 19890822 In: Journal of inherited metabolic disease vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	115.	Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. [electronic resource] by Bougnères, P F Saudubray, J M Marsac, C Bernard, O Odièvre, M Girard, J Producer: 19810720 In: The Journal of pediatrics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	116.	Defective insulin response to intravenous glucose in congenital lactic acidosis. [electronic resource] by Coude, F X Ogier, H Munnich, A Marsac, C Charpentier, C Saudubray, J M Producer: 19820614 In: Pediatric research vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	117.	Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. [electronic resource] by Pande, S V Brivet, M Slama, A Demaugre, F Aufrant, C Saudubray, J M 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)
	118.	Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. [electronic resource] by Demaugre, F Bonnefont, J P Colonna, M Cepanec, C Leroux, J P Saudubray, J M Producer: 19910410 In: The Journal of clinical investigation vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	119.	[Type II oculo-cutaneous tyrosinosis]. [electronic resource] by Gounod, N Ogier, H Dufier, J L Larrègue, M Saudubray, J M de Prost, Y Producer: 19850403 In: Annales de dermatologie et de venereologie vol. 111 Availability: No items available. Save to lists Add to cart (remove)
	120.	Antenatal diagnosis of glutaricaciduria type II. [electronic resource] by Mitchell, G Saudubray, J M Benoit, Y Rocchiccioli, F Charpentier, C Ogier, H Boue, J Producer: 19830623 In: Lancet (London, England) vol. 1 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.