de Kremer RD - Search Results

1

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, Rodés M, Vilaseca MA, Balcells S, Grinberg D. Urreizti R, et al. Among authors: de kremer rd. J Hum Genet. 2006;51(4):305-313. doi: 10.1007/s10038-006-0362-0. Epub 2006 Feb 15. J Hum Genet. 2006. PMID: 16479318

2

Erratum to: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, Rodés M, Vilaseca MA, Balcells S, Grinberg D. Urreizti R, et al. Among authors: de kremer rd. J Hum Genet. 2007 Apr;52(4):388-389. doi: 10.1007/s10038-006-0103-4. J Hum Genet. 2007. PMID: 32033511

3

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

Delgado MA, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo HH, Segura F, de Kremer RD, Balcells S, Grinberg D, Asteggiano CG. Delgado MA, et al. Among authors: de kremer rd. Sci Rep. 2014 Sep 18;4:6407. doi: 10.1038/srep06407. Sci Rep. 2014. PMID: 25230886 Free PMC article.

4

Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.

Papazoglu GM, Cubilla M, Pereyra M, de Kremer RD, Pérez B, Sturiale L, Asteggiano CG. Papazoglu GM, et al. Among authors: de kremer rd. Glycoconj J. 2021 Apr;38(2):191-200. doi: 10.1007/s10719-021-09976-w. Epub 2021 Mar 1. Glycoconj J. 2021. PMID: 33644825 Free article.

5

Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection.

Kleiman FE, de Kremer RD, de Ramirez AO, Gravel RA, Argaraña CE. Kleiman FE, et al. Among authors: de kremer rd, de ramirez ao. Hum Genet. 1994 Sep;94(3):279-82. doi: 10.1007/BF00208283. Hum Genet. 1994. PMID: 8076944

6

Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: implications of molecular diagnosis in Argentina.

Ramírez AM, Ramos MD, Jiménez J, Ghio A, de Botelli MM, Rezzónico CA, Marqués I, Pereyro S, Casals T, de Kremer RD. Ramírez AM, et al. Among authors: de kremer rd, de botelli mm. Mol Genet Metab. 2006 Apr;87(4):370-5. doi: 10.1016/j.ymgme.2005.12.001. Epub 2006 Jan 19. Mol Genet Metab. 2006. PMID: 16423550

7

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

Millón MB, Delgado MA, Azar NB, Guelbert N, Sturiale L, Garozzo D, Matthijs G, Jaeken J, de Kremer RD, Asteggiano CG. Millón MB, et al. Among authors: de kremer rd. JIMD Rep. 2011;1:65-72. doi: 10.1007/8904_2011_18. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430830 Free PMC article.

8

A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant.

Laróvere LE, Romero N, Fairbanks LD, Conde C, Guelbert N, Rosa AL, de Kremer RD. Laróvere LE, et al. Among authors: de kremer rd. Mol Genet Metab. 2004 Apr;81(4):352-4. doi: 10.1016/j.ymgme.2004.01.013. Mol Genet Metab. 2004. PMID: 15059624

9

Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.

Sampat R, Fu R, Larovere LE, Torres RJ, Ceballos-Picot I, Fischbach M, de Kremer R, Schretlen DJ, Puig JG, Jinnah HA. Sampat R, et al. Hum Genet. 2011 Jan;129(1):71-8. doi: 10.1007/s00439-010-0901-9. Epub 2010 Oct 28. Hum Genet. 2011. PMID: 20981450 Free PMC article.

10

Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster.

Laróvere LE, Angaroni CJ, Antonozzi SL, Bezard MB, Shimohama M, de Kremer RD. Laróvere LE, et al. Among authors: de kremer rd. Clin Biochem. 2009 Jul;42(10-11):1166-8. doi: 10.1016/j.clinbiochem.2009.03.024. Epub 2009 Apr 7. Clin Biochem. 2009. PMID: 19358837

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