Fabry disease: enzymatic diagnosis in dried blood spots on filter paper von Chamoles, N.A, Blanco, M, Gaggioli, D

Volltext

Hurler-like Phenotype: Enzymatic Diagnosis in Dried Blood Spots on Filter Paper von Chamoles, Nestor A, Blanco, Mariana B, Gaggioli, Daniela, Casentini, Carina

Volltext

Diagnosis of α-L-iduronidase deficiency in dried blood spots on filter paper : The possibility of newborn diagnosis von CHAMOLES, Néstor A, BLANCO, Mariana, GAGGIOLI, Daniela

Volltext

Acute disseminated encephalomyelitis: A long-term follow-up study of 84 pediatric patients von TENEMBAUM, Silvia, CHAMOLES, Nestor, FEJERMAN, Natalio

Volltext

Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme von Abdenur, J. E., Chamoles, N. A., Guinle, A. E., Schenone, A. B., Fuertes, A. N. J.

Volltext

The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype? von Andresen, Brage Storstein, Bross, Peter, Udvari, Szabolcs, Kirk, Jean, Gray, George, Kmoch, Stanislav, Chamoles, Nestor, Knudsen, Inga, Winter, Vibeke, Wilcken, Bridget, Yokota, Ichiro, Hart, Kimberly, Packman, Seymour, Harpey, Jean Paul, Saudubray, Jean Marie, Hale, Daniel E., Bolund, Lars, Kølvraa, Steen, Gregersen, Niels

Volltext

An Unexpected Affected Female Patient in a Classical Lesch–Nyhan Family von De Gregorio, L., Nyhan, W.L., Serafin, E., Chamoles, N.A.

Volltext

Two clinical forms of glycogen-storage disease type II in two generations of the same family von Amartino, H, Painceira, D, Pomponio, RJ, Niizawa, G, Sabio Paz, V, Blanco, M, Chamoles, N

Volltext

Retrospective diagnosis of GM1 gangliosidosis by use of a newborn-screening card von Chamoles, N A, Blanco, M B, Iorcansky, S, Gaggioli, D, Spécola, N, Casentini, C

Volltext

Neuropathic pain in Fabry's disease: heterogeneous remission in three years of enzyme replacement therapy von Domínguez, R O, Amartino, H, Chamoles, N A

Volltext

Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening von Li, Yijun, Scott, C. Ronald, Chamoles, Nestor A, Ghavami, Ahmad, Pinto, B. Mario, Turecek, Frantisek, Gelb, Michael H

Volltext

Multiple acyl-coa-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment von ABDENUR, José E, CHAMOLES, Néstor A, SCHENONE, Andrea B, JORGE, L. I. A, GUINLE, Adolfo, BERNARD, Cristina, LEVANDOVSKIY, Valeriy, FUSTA, Marta, LAVORGNA, Silvana

Volltext

Evaluation of Urinary Acylglycines by Electrospray Tandem Mass Spectrometry in Mitochondrial Energy Metabolism Defects and Organic Acidurias von Bonafé, Luisa, Troxler, Heinz, Kuster, Thomas, Heizmann, Claus W., Chamoles, Néstor A., Burlina, Alberto B., Blau, Nenad

Volltext

Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper von Chamoles, Néstor A, Niizawa, Gabriela, Blanco, Mariana, Gaggioli, Daniela, Casentini, Carina

Volltext

Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency von NUOFFER, J.-M, DE LONLAY, P, COSTA, C, ROE, C. R, CHAMOLES, N, BRIVET, M, SAUDUBRAY, J. M

Volltext

L-2-Hydroxyglutaric acidaemia : clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase von BARTH, P. G, HOFFMANN, G. F, SCHUTGENS, R. B. H, TREFZ, F. K, HARTUNG, H.-P, CHAMOLES, N. A, SFAELLO, Z, CARUSO, U, JAEKEN, J, WANDERS, R. J. A, DURAN, M, JANSEN, G. A, JAKOBS, C, LEHNERT, W, HANEFELD, F, VALK, J

Volltext

Gaucher and Niemann–Pick diseases—enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards von Chamoles, Néstor A., Blanco, Mariana, Gaggioli, Daniela, Casentini, Carina

Volltext

Presence of the Mediterranean PKU mutation IVS10 in Latin America von Pérez, Belén, Desviat, Lourdes R., Die, Mar, Cornejo, Verónica, Chamoles, Nestor A., Nicolini, Humberto, Ugarte, Magdalena

Volltext

Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns von Wang, Ding, Eadala, Bhramara, Sadilek, Martin, Chamoles, Nestor A, Turecek, Frantisek, Scott, C Ronald, Gelb, Michael H

Volltext

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation von Díaz-Font, Anna, Santamaría, Raül, Cozar, Mònica, Blanco, Mariana, Chamoles, Néstor, Coll, Maria Josep, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel

Volltext