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	1.	Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1. [electronic resource] by Chevalier-Porst, Françoise Rolland, Marie-Odile Cochat, Pierre Bozon, Dominique Producer: 20050418 In: American journal of medical genetics. Part A vol. 132A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Primary hyperoxaluria type 1: still challenging! [electronic resource] by Cochat, Pierre Liutkus, Aurélia Fargue, Sonia Basmaison, Odile Ranchin, Bruno Rolland, Marie-Odile Producer: 20070222 In: Pediatric nephrology (Berlin, Germany) vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation. [electronic resource] by Schiff, Manuel Levrat, Virginie Acquaviva, Cécile Vianey-Saban, Christine Rolland, Marie-Odile Guffon, Nathalie Producer: 20060508 In: Molecular genetics and metabolism vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy). [electronic resource] by Applegarth, Derek A Rolland, Marie-Odile Toone, Jennifer R Coulter-Mackie, Marion Saura, Robert Producer: 20020430 In: Prenatal diagnosis vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation. [electronic resource] by Korman, Stanley H Wexler, Isaiah D Gutman, Alisa Rolland, Marie-Odile Kanno, Junko Kure, Shigeo Producer: 20060425 In: Annals of neurology vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency. [electronic resource] by Fukao, Toshiyuki Sakurai, Satomi Rolland, Marie-Odile Zabot, Marie-Therese Schulze, Andreas Yamada, Keitaro Kondo, Naomi Producer: 20061213 In: Molecular genetics and metabolism vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. [electronic resource] by Fukao, Toshiyuki Zhang, Gaixiu Rolland, Marie-Odile Zabot, Marie-Therese Guffon, Nathalie Aoki, Yusuke Kondo, Naomi Producer: 20080328 In: Molecular genetics and metabolism vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Muscle phosphorylase b kinase deficiency revisited. [electronic resource] by Echaniz-Laguna, Andoni Akman, Hasan O Mohr, Michel Tranchant, Christine Talmant-Verbist, Violaine Rolland, Marie-Odile Dimauro, Salvatore Producer: 20100623 In: Neuromuscular disorders : NMD vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA. [electronic resource] by Zhang, Gai Xiu Fukao, Toshiyuki Rolland, Marie-Odile Zabot, Marie-Therese Renom, Gilles Touma, Elias Kondo, Masashi Matsuo, Naoki Kondo, Naomi Producer: 20041222 In: Pediatric research vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period. [electronic resource] by Jimenez-Mallebrera, Cecilia Nascimento, Andres Cusi, Victoria Corbera, Joan Ramon Rolland, Marie-Odile Froissart, Rosaline Olivé, Montse Ferrer, Isidro Colomer, Jaume Producer: 20090805 In: Histopathology vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Allogeneic bone marrow transplantation in mevalonic aciduria. [electronic resource] by Neven, Bénédicte Valayannopoulos, Vassili Quartier, Pierre Blanche, Stéphane Prieur, Anne-Marie Debré, Marianne Rolland, Marie-Odile Rabier, Daniel Cuisset, Laurence Cavazzana-Calvo, Marina de Lonlay, Pascale Fischer, Alain Producer: 20070706 In: The New England journal of medicine vol. 356 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. [electronic resource] by Harambat, Jérôme Fargue, Sonia Acquaviva, Cécile Gagnadoux, Marie-France Janssen, Françoise Liutkus, Aurélia Mourani, Chebl Macher, Marie-Alice Abramowicz, Daniel Legendre, Christophe Durrbach, Antoine Tsimaratos, Michel Nivet, Hubert Girardin, Eric Schott, Anne-Marie Rolland, Marie-Odile Cochat, Pierre Producer: 20100519 In: Kidney international vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1. [electronic resource] by Fargue, Sonia Harambat, Jérôme Gagnadoux, Marie-France Tsimaratos, Michel Janssen, Françoise Llanas, Brigitte Berthélémé, Jean-Pierre Boudailliez, Bernard Champion, Gérard Guyot, Claude Macher, Marie-Alice Nivet, Hubert Ranchin, Bruno Salomon, Rémi Taque, Sophie Rolland, Marie-Odile Cochat, Pierre Producer: 20091230 In: Kidney international vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)