Dodelson de Kremer R - Search Results

1

Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.

Amorosi CA, Treslova H, Dodelson de Kremer R, Coll MJ, Dvoráková L, Oller Ramírez AM. Amorosi CA, et al. Among authors: dodelson de kremer r. Hum Genet. 2010 Apr;127(4):486. Hum Genet. 2010. PMID: 21488262 No abstract available.

2

X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients.

Amorosi CA, Myskóva H, Monti MR, Argaraña CE, Morita M, Kemp S, Dodelson de Kremer R, Dvoráková L, Oller de Ramírez AM. Amorosi CA, et al. Among authors: dodelson de kremer r. PLoS One. 2012;7(12):e52635. doi: 10.1371/journal.pone.0052635. Epub 2012 Dec 31. PLoS One. 2012. PMID: 23300730 Free PMC article.

3

Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.

Amorosi CA, Treslova H, Dodelson de Kremer R, Coll MJ, Dvoráková L, Oller Ramírez AM. Amorosi CA, et al. Among authors: dodelson de kremer r. Hum Genet. 2010 Apr;127(4):486-7. Hum Genet. 2010. PMID: 21488264 No abstract available.

4

Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.

Amorosi CA, Treslova H, Dodelson de Kremer R, Coll MJ, Dvoráková L, Oller Ramírez AM. Amorosi CA, et al. Among authors: dodelson de kremer r. Hum Genet. 2010 Apr;127(4):486. Hum Genet. 2010. PMID: 21488311 No abstract available.

5

[Juvenile form of Sandhoff disease: first case reported in Argentina].

Mugnaini J, Pereyra M, Dodelson de Kremer R, Gamboni B, Argaraña CE, Oller Ramírez AM. Mugnaini J, et al. Among authors: dodelson de kremer r. Arch Argent Pediatr. 2017 Oct 1;115(5):e298-e301. doi: 10.5546/aap.2017.e298. Arch Argent Pediatr. 2017. PMID: 28895707 Free article. Spanish.

6

Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.

Kohan R, Carabelos MN, Xin W, Sims K, Guelbert N, Cismondi IA, Pons P, Alonso GI, Troncoso M, Witting S, Pearce DA, Dodelson de Kremer R, Oller-Ramírez AM, Noher de Halac I. Kohan R, et al. Among authors: dodelson de kremer r. Gene. 2013 Mar 1;516(1):114-21. doi: 10.1016/j.gene.2012.12.058. Epub 2012 Dec 22. Gene. 2013. PMID: 23266810 Free PMC article.

7

Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene.

Angaroni CJ, Labrune P, Petit F, Sastre D, Capra AE, Dodelson de Kremer R, Argaraña CE. Angaroni CJ, et al. Among authors: dodelson de kremer r. Mol Genet Metab. 2006 May;88(1):96-9. doi: 10.1016/j.ymgme.2005.12.011. Epub 2006 Feb 21. Mol Genet Metab. 2006. PMID: 16490377

8

Maternal mutation 677C > T in the methylenetetrahydrofolate reductase gene associated with severe brain injury in offspring.

Dodelson de Kremer R, Grosso C. Dodelson de Kremer R, et al. Clin Genet. 2005 Jan;67(1):69-80. doi: 10.1111/j.1399-0004.2004.00373.x. Clin Genet. 2005. PMID: 15617551

9

[Molecular diagnosis of cystic fibrosis in 93 Argentinean patients and detection of heterozygotes in affected families. Impact on health services and therapeutic advances].

Oller de Ramírez AM, Ghio A, Melano de Botelli M, Dodelson de Kremer R. Oller de Ramírez AM, et al. Among authors: dodelson de kremer r. Arch Argent Pediatr. 2008 Aug;106(4):310-9. doi: 10.1590/S0325-00752008000400006. Arch Argent Pediatr. 2008. PMID: 18766277 Free article. Spanish.

10

Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.

Asteggiano CG, Papazoglu M, Bistué Millón MB, Peralta MF, Azar NB, Spécola NS, Guelbert N, Suldrup NS, Pereyra M, Dodelson de Kremer R. Asteggiano CG, et al. Among authors: dodelson de kremer r. Pediatr Res. 2018 Dec;84(6):837-841. doi: 10.1038/s41390-018-0206-6. Epub 2018 Oct 18. Pediatr Res. 2018. PMID: 30397276

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