Hurler-like Phenotype: Enzymatic Diagnosis in Dried Blood Spots on Filter Paper
Chamoles, Nestor A, Blanco, Mariana B, Gaggioli, Daniela, Casentini, Carina
Published in Clinical chemistry (Baltimore, Md.) (01.12.2001)
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Published in Clinical chemistry (Baltimore, Md.) (01.12.2001)
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Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme
Abdenur, J. E., Chamoles, N. A., Guinle, A. E., Schenone, A. B., Fuertes, A. N. J.
Published in Journal of inherited metabolic disease (01.08.1998)
Published in Journal of inherited metabolic disease (01.08.1998)
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Journal Article
An Unexpected Affected Female Patient in a Classical Lesch–Nyhan Family
De Gregorio, L., Nyhan, W.L., Serafin, E., Chamoles, N.A.
Published in Molecular genetics and metabolism (01.03.2000)
Published in Molecular genetics and metabolism (01.03.2000)
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Journal Article
Multiple acyl-coa-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment
ABDENUR, José E, CHAMOLES, Néstor A, SCHENONE, Andrea B, JORGE, L. I. A, GUINLE, Adolfo, BERNARD, Cristina, LEVANDOVSKIY, Valeriy, FUSTA, Marta, LAVORGNA, Silvana
Published in Pediatric research (01.07.2001)
Published in Pediatric research (01.07.2001)
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Journal Article
Presence of the Mediterranean PKU mutation IVS10 in Latin America
Pérez, B, Desviat, L R, Díe, M, Cornejo, V, Chamoles, N A, Nicolini, H, Ugarte, M
Published in Human molecular genetics (01.08.1993)
Published in Human molecular genetics (01.08.1993)
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Journal Article
Retrospective diagnosis of GM1 gangliosidosis by use of a newborn-screening card
Chamoles, N A, Blanco, M B, Iorcansky, S, Gaggioli, D, Spécola, N, Casentini, C
Published in Clinical chemistry (Baltimore, Md.) (01.11.2001)
Published in Clinical chemistry (Baltimore, Md.) (01.11.2001)
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Journal Article
Evaluation of Urinary Acylglycines by Electrospray Tandem Mass Spectrometry in Mitochondrial Energy Metabolism Defects and Organic Acidurias
Bonafé, Luisa, Troxler, Heinz, Kuster, Thomas, Heizmann, Claus W., Chamoles, Néstor A., Burlina, Alberto B., Blau, Nenad
Published in Molecular genetics and metabolism (01.04.2000)
Published in Molecular genetics and metabolism (01.04.2000)
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Journal Article
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase
Barth, P G, Hoffmann, G F, Jaeken, J, Wanders, R J, Duran, M, Jansen, G A, Jakobs, C, Lehnert, W, Hanefeld, F, Valk, J
Published in Journal of inherited metabolic disease (01.07.1993)
Published in Journal of inherited metabolic disease (01.07.1993)
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Journal Article
Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper
Chamoles, Néstor A, Niizawa, Gabriela, Blanco, Mariana, Gaggioli, Daniela, Casentini, Carina
Published in Clinica chimica acta (01.09.2004)
Published in Clinica chimica acta (01.09.2004)
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Journal Article
Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns
Wang, Ding, Eadala, Bhramara, Sadilek, Martin, Chamoles, Nestor A, Turecek, Frantisek, Scott, C Ronald, Gelb, Michael H
Published in Clinical chemistry (Baltimore, Md.) (01.05.2005)
Published in Clinical chemistry (Baltimore, Md.) (01.05.2005)
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Journal Article
Aromatic l-aminoacid decarboxylase deficiency: Unusual neonatal presentation and additional findings in organic acid analysis
Abdenur, Jose E., Abeling, Nico, Specola, Norma, Jorge, Lia, Schenone, Andrea B., van Cruchten, Arno C., Chamoles, Nestor A.
Published in Molecular genetics and metabolism (2006)
Published in Molecular genetics and metabolism (2006)
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Journal Article
Retrospective diagnosis of glycogen storage disease type II by use of a newborn-screening card
Niizawa, Gabriela, Levin, Celina, Aranda, Claudio, Blanco, Mariana, Chamoles, Néstor A.
Published in Clinica chimica acta (01.09.2005)
Published in Clinica chimica acta (01.09.2005)
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Journal Article
MCAD deficiency. Acylcarnitines (AC) by tandem mass spectrometry (MS-MS) are useful to monitor dietary treatment
Abdenur, J E, Chamoles, N A, Specola, N, Schenone, A B, Jorge, L, Guinle, A, Bernard, C I, Levandowskiy, V, Lavorgna, S
Published in Advances in experimental medicine and biology (1999)
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Published in Advances in experimental medicine and biology (1999)
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