Kremer RD - Search Results

1

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.

Kohan R, Cismondi IA, Kremer RD, Muller VJ, Guelbert N, Anzolini VT, Fietz MJ, Ramírez AM, Halac IN. Kohan R, et al. Among authors: kremer rd. Clin Genet. 2009 Oct;76(4):372-82. doi: 10.1111/j.1399-0004.2009.01214.x. Clin Genet. 2009. PMID: 19793312

2

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

Tomatsu S, Dieter T, Schwartz IV, Sarmient P, Giugliani R, Barrera LA, Guelbert N, Kremer R, Repetto GM, Gutierrez MA, Nishioka T, Serrato OP, Montaño AM, Yamaguchi S, Noguchi A. Tomatsu S, et al. J Hum Genet. 2004;49(9):490-494. doi: 10.1007/s10038-004-0178-8. Epub 2004 Aug 11. J Hum Genet. 2004. PMID: 15309681

3

Gene symbol: IDS. Disease: Mucopolysaccharidosis II.

Oller Ramirez AM, Coll MJ, Chabás A, Azar NB, Ghio AV, Kremer RD. Oller Ramirez AM, et al. Among authors: kremer rd. Hum Genet. 2008 Jun;123(5):545. Hum Genet. 2008. PMID: 20960627 No abstract available.

4

Gene symbol: IDS. Disease: Hunter syndrome.

Oller Ramirez AM, Coll MJ, Chabás A, Azar NB, Ghio AV, Kremer RD. Oller Ramirez AM, et al. Among authors: kremer rd. Hum Genet. 2008 Jun;123(5):546. Hum Genet. 2008. PMID: 20960629 No abstract available.

5

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.

6

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.

Silvera-Ruiz SM, Arranz JA, Häberle J, Angaroni CJ, Bezard M, Guelbert N, Becerra A, Peralta F, de Kremer RD, Laróvere LE. Silvera-Ruiz SM, et al. Among authors: de kremer rd. Orphanet J Rare Dis. 2019 Aug 19;14(1):203. doi: 10.1186/s13023-019-1177-3. Orphanet J Rare Dis. 2019. PMID: 31426867 Free PMC article.

7

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.

8

Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection.

Laróvere LE, Ruiz SM, Angaroni CJ, de Kremer RD. Laróvere LE, et al. Among authors: de kremer rd. JIMD Rep. 2012;6:27-9. doi: 10.1007/8904_2012_127. Epub 2012 Feb 26. JIMD Rep. 2012. PMID: 23430935 Free PMC article.

9

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

Zampieri S, Cattarossi S, Oller Ramirez AM, Rosano C, Lourenco CM, Passon N, Moroni I, Uziel G, Pettinari A, Stanzial F, de Kremer RD, Azar NB, Hazan F, Filocamo M, Bembi B, Dardis A. Zampieri S, et al. Among authors: de kremer rd. PLoS One. 2012;7(7):e41516. doi: 10.1371/journal.pone.0041516. Epub 2012 Jul 27. PLoS One. 2012. PMID: 22848519 Free PMC article. Clinical Trial.

10

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.

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