de Kremer RD - Search Results

1

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.

Pérez B, Angaroni C, Sánchez-Alcudia R, Merinero B, Pérez-Cerdá C, Specola N, Rodríguez-Pombo P, Wajner M, de Kremer RD, Cornejo V, Desviat LR, Ugarte M. Pérez B, et al. Among authors: de kremer rd. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S307-14. doi: 10.1007/s10545-010-9116-4. Epub 2010 Jun 15. J Inherit Metab Dis. 2010. PMID: 20549364

2

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

3

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.

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

Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.

Angaroni CJ, de Kremer RD, Argaraña CE, Paschini-Capra AE, Giner-Ayala AN, Pezza RJ, Pan CJ, Chou JY. Angaroni CJ, et al. Among authors: de kremer rd. Mol Genet Metab. 2004 Nov;83(3):276-9. doi: 10.1016/j.ymgme.2004.06.010. Mol Genet Metab. 2004. PMID: 15542400

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

Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).

De Kremer RD, Paschini-Capra A, Bacman S, Argaraña C, Civallero G, Kelley RI, Guelbert N, Latini A, Noher de Halac I, Giner-Ayala A, Johnston J, Proujansky R, Gonzalez I, Depetris-Boldini C, Oller-Ramírez A, Angaroni C, Theaux RA, Hliba E, Juaneda E. De Kremer RD, et al. Am J Med Genet. 2001 Mar 1;99(2):83-93. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1136>3.0.co;2-x. Am J Med Genet. 2001. PMID: 11241464

8

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.

9

Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.

Laróvere LE, O'Neill JP, Randall M, Fairbanks LD, Guelbert N, Czornyj L, de Kremer RD. Laróvere LE, et al. Among authors: de kremer rd. Nucleosides Nucleotides Nucleic Acids. 2007;26(3):255-8. doi: 10.1080/15257770701257269. Nucleosides Nucleotides Nucleic Acids. 2007. PMID: 17454734

10

Cerebrospinal fluid purines, pyrimidines, organic acids and amino acids in neonatal citrullinaemia.

Larovere L, Latini A, Depetris-Boldini C, Coronel CE, de Kremer RD. Larovere L, et al. Among authors: de kremer rd. Adv Exp Med Biol. 2000;486:97-101. doi: 10.1007/0-306-46843-3_19. Adv Exp Med Biol. 2000. PMID: 11783536 No abstract available.

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