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	1.	Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. [electronic resource] by Amorosi, Cyntia Anabel Treslova, Helena Dodelson de Kremer, Raquel Coll, María José Dvoráková, Lenka Oller Ramírez, Ana María Producer: 20110506 In: Human genetics vol. 127 Availability: No items available. Save to lists Add to cart (remove)
	2.	Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. [electronic resource] by Amorosi, Cyntia Anabel Treslova, Helena Dodelson de Kremer, Raquel Coll, María José Dvoráková, Lenka Oller Ramírez, Ana María Producer: 20110506 In: Human genetics vol. 127 Availability: No items available. Save to lists Add to cart (remove)
	3.	Gene symbol: IDS. Disease: Mucopolysaccharidosis II. [electronic resource] by Oller Ramirez, Ana María Coll, María José Chabás, Amparo Azar, Nydia Beatríz Ghio, Addy Vanina Kremer, Raquel Dodelson Producer: 20101124 In: Human genetics vol. 123 Availability: No items available. Save to lists Add to cart (remove)
	4.	Gene symbol: IDS. Disease: Hunter syndrome. [electronic resource] by Oller Ramirez, Ana María Coll, María José Chabás, Amparo Azar, Nydia Beatríz Ghio, Addy Vanina Kremer, Raquel Dodelson Producer: 20101124 In: Human genetics vol. 123 Availability: No items available. Save to lists Add to cart (remove)
	5.	Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. [electronic resource] by Amorosi, Cyntia Anabel Treslova, Helena Dodelson de Kremer, Raquel Coll, María José Dvoráková, Lenka Oller Ramírez, Ana María Producer: 20110506 In: Human genetics vol. 127 Availability: No items available. Save to lists Add to cart (remove)
	6.	Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinoses. [electronic resource] by Kohan, Romina Noher de Halac, Inés Tapia Anzolini, Verónica Cismondi, Adriana Oller Ramírez, Ana María Paschini Capra, Ana de Kremer, Raquel Dodelson Producer: 20050801 In: Clinical biochemistry vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. [electronic resource] by Kohan, Romina Pesaola, Favio Guelbert, Norberto Pons, Patricia Oller-Ramírez, Ana María Rautenberg, Gisela Becerra, Adriana Sims, Katherine Xin, Winnie Cismondi, Inés Adriana Noher de Halac, Inés Publication details: Biochimica et biophysica acta Oct 2015 In: Biochimica et biophysica acta vol. 1852 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. [electronic resource] by Zampieri, Stefania Cattarossi, Silvia Oller Ramirez, Ana Maria Rosano, Camillo Lourenco, Charles Marques Passon, Nadia Moroni, Isabella Uziel, Graziella Pettinari, Antonella Stanzial, Franco de Kremer, Raquel Dodelson Azar, Nydia Beatriz Hazan, Filiz Filocamo, Mirella Bembi, Bruno Dardis, Andrea Producer: 20130311 In: PloS one vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. [electronic resource] by Kohan, Romina Carabelos, María Noelia Xin, Winnie Sims, Katherine Guelbert, Norberto Cismondi, Inés Adriana Pons, Patricia Alonso, Graciela Irene Troncoso, Mónica Witting, Scarlet Pearce, David A Dodelson de Kremer, Raquel Oller-Ramírez, Ana María Noher de Halac, Inés Producer: 20130325 In: Gene vol. 516 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)