Chamoles NA - Search Results

1

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. Abdenur JE, et al. Among authors: chamoles na. J Inherit Metab Dis. 1998 Aug;21(6):624-30. doi: 10.1023/a:1005424331822. J Inherit Metab Dis. 1998. PMID: 9762597

2

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. Abdenur JE, et al. Among authors: chamoles na. Adv Exp Med Biol. 1999;466:353-63. Adv Exp Med Biol. 1999. PMID: 10709663 No abstract available.

3

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. Abdenur JE, et al. Among authors: chamoles na. Pediatr Res. 2001 Jul;50(1):61-6. doi: 10.1203/00006450-200107000-00013. Pediatr Res. 2001. PMID: 11420420

4

[Autoimmune hypoglycemia syndrome with specific anti-human insulin antibodies].

Cresto JC, Abdenur JE, Chamoles N, Bresciani P, Ruiz M, Massa B, Camberos MC, Basabe JC. Cresto JC, et al. Medicina (B Aires). 1996;56(3):279-83. Medicina (B Aires). 1996. PMID: 9035485 Spanish.

5

Culture of porcine hepatocytes: the dogma of exogenous matrix revisited.

Lorenti A, Barbich M, Hidalgo A, Hyon SH, Sorroche P, Guinle A, Schenone A, Chamoles N, Argibay P. Lorenti A, et al. Artif Organs. 2001 Jul;25(7):546-50. doi: 10.1046/j.1525-1594.2001.025007546.x. Artif Organs. 2001. PMID: 11493275

6

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders.

Gelb MH, Turecek F, Scott CR, Chamoles NA. Gelb MH, et al. Among authors: chamoles na. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):397-404. doi: 10.1007/s10545-006-0265-4. J Inherit Metab Dis. 2006. PMID: 16763908 Free PMC article.

7

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. Bonafé L, et al. Among authors: chamoles na. Mol Genet Metab. 2000 Apr;69(4):302-11. doi: 10.1006/mgme.2000.2982. Mol Genet Metab. 2000. PMID: 10870848

8

Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.

Chamoles NA, Blanco M, Gaggioli D, Casentini C. Chamoles NA, et al. Clin Chim Acta. 2002 Apr;318(1-2):133-7. doi: 10.1016/s0009-8981(02)00002-5. Clin Chim Acta. 2002. PMID: 11880123

9

Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.

Chamoles NA, Blanco M, Gaggioli D, Casentini C. Chamoles NA, et al. Clin Chim Acta. 2002 Mar;317(1-2):191-7. doi: 10.1016/s0009-8981(01)00798-7. Clin Chim Acta. 2002. PMID: 11814475

10

Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum.

Baranzini SE, del Rey G, Nigro N, Szijan I, Chamoles N, Cresto JC. Baranzini SE, et al. Am J Med Genet. 1997 Jun 13;70(3):216-21. Am J Med Genet. 1997. PMID: 9188656

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

41 results

Search Page

Filters