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Items: 23

1.

Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.

Palmer RE, Amartino HM, Niizawa G, Blanco M, Pomponio RJ, Chamoles NA.

Neuromuscul Disord. 2007 Jan;17(1):16-22. Epub 2006 Oct 23.

PMID:
17056254
2.

[Neuropathic pain in Fabry's disease: heterogeneous remission in three years of enzyme replacement therapy].

Domínguez RO, Amartino H, Chamoles NA; Grupo de Estudio de la Enfermedad de Fabry.

Rev Neurol. 2006 Aug 16-31;43(4):201-6. Spanish.

3.
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Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis.

Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA.

Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9.

PMID:
16288991
5.

Retrospective diagnosis of glycogen storage disease type II by use of a newborn-screening card.

Niizawa G, Levin C, Aranda C, Blanco M, Chamoles NA.

Clin Chim Acta. 2005 Sep;359(1-2):205-6. No abstract available.

PMID:
15963968
6.

Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns.

Wang D, Eadala B, Sadilek M, Chamoles NA, Turecek F, Scott CR, Gelb MH.

Clin Chem. 2005 May;51(5):898-900. Epub 2005 Feb 3. No abstract available.

7.

Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.

Chamoles NA, Niizawa G, Blanco M, Gaggioli D, Casentini C.

Clin Chim Acta. 2004 Sep;347(1-2):97-102.

PMID:
15313146
8.

Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.

Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH.

Clin Chem. 2004 Oct;50(10):1785-96. Epub 2004 Aug 3.

9.

Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.

Casals N, Gómez-Puertas P, Pié J, Mir C, Roca R, Puisac B, Aledo R, Clotet J, Menao S, Serra D, Asins G, Till J, Elias-Jones AC, Cresto JC, Chamoles NA, Abdenur JE, Mayatepek E, Besley G, Valencia A, Hegardt FG.

J Biol Chem. 2003 Aug 1;278(31):29016-23. Epub 2003 May 13.

10.

Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.

Peters HL, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG, Ioannou PA.

Hum Mutat. 2002 Nov;20(5):406.

PMID:
12402345
11.
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13.

Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper.

Chamoles NA, Blanco MB, Gaggioli D, Casentini C.

Clin Chem. 2001 Dec;47(12):2098-102.

14.

Retrospective diagnosis of GM1 gangliosidosis by use of a newborn-screening card.

Chamoles NA, Blanco MB, Iorcansky S, Gaggioli D, Spécola N, Casentini C.

Clin Chem. 2001 Nov;47(11):2068. No abstract available.

15.

Fabry disease: enzymatic diagnosis in dried blood spots on filter paper.

Chamoles NA, Blanco M, Gaggioli D.

Clin Chim Acta. 2001 Jun;308(1-2):195-6. No abstract available.

PMID:
11432396
16.

Multiple acyl-CoA-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment.

Abdenur JE, Chamoles NA, Schenone AB, Jorge L, Guinle A, Bernard C, Levandovskiy V, Fusta M, Lavorgna S.

Pediatr Res. 2001 Jul;50(1):61-6.

PMID:
11420420
17.

Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis.

Chamoles NA, Blanco M, Gaggioli D.

Clin Chem. 2001 Apr;47(4):780-1. No abstract available. Erratum in: Clin Chem 2001 Dec;47(12):2192.

18.

Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.

Bonafé L, Troxler H, Kuster T, Heizmann CW, Chamoles NA, Burlina AB, Blau N.

Mol Genet Metab. 2000 Apr;69(4):302-11.

PMID:
10870848
19.

An unexpected affected female patient in a classical Lesch-Nyhan family.

De Gregorio L, Nyhan WL, Serafin E, Chamoles NA.

Mol Genet Metab. 2000 Mar;69(3):263-8.

PMID:
10767182
20.

MCAD deficiency. Acylcarnitines (AC) by tandem mass spectrometry (MS-MS) are useful to monitor dietary treatment.

Abdenur JE, Chamoles NA, Specola N, Schenone AB, Jorge L, Guinle A, Bernard CI, Levandowskiy V, Lavorgna S.

Adv Exp Med Biol. 1999;466:353-63. No abstract available.

PMID:
10709663
21.

Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme.

Abdenur JE, Chamoles NA, Guinle AE, Schenone AB, Fuertes AN.

J Inherit Metab Dis. 1998 Aug;21(6):624-30.

PMID:
9762597
22.

Presence of the Mediterranean PKU mutation IVS10 in Latin America.

Pérez B, Desviat LR, Díe M, Cornejo V, Chamoles NA, Nicolini H, Ugarte M.

Hum Mol Genet. 1993 Aug;2(8):1289-90. No abstract available.

PMID:
8401510
23.

Sequential thin layer chromatography of urinary acidic glycosaminglycans.

Humbel R, Chamoles NA.

Clin Chim Acta. 1972 Aug;40(1):290-3. No abstract available.

PMID:
4262516

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