de Kremer RD - Search Results

1

Attenuated variants of Lesch-Nyhan disease.

Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG; Lesch-Nyhan Disease International Study Group. Jinnah HA, et al. Among authors: de kremer rd. Brain. 2010 Mar;133(Pt 3):671-89. doi: 10.1093/brain/awq013. Epub 2010 Feb 22. Brain. 2010. PMID: 20176575 Free PMC article. Review.

2

Delineation of the motor disorder of Lesch-Nyhan disease.

Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I, Gonzalez-Alegre P, Neychev V, Torres RJ, Dulac O, Desguerre I, Schretlen DJ, Robey KL, Barabas G, Bloem BR, Nyhan W, De Kremer R, Eddey GE, Puig JG, Reich SG; Lesch-Nyhan Disease International Study Group. Jinnah HA, et al. Brain. 2006 May;129(Pt 5):1201-17. doi: 10.1093/brain/awl056. Epub 2006 Mar 20. Brain. 2006. PMID: 16549399 Free PMC article. Review.

3

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.

4

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

5

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

6

Purines, lactate and myo-inositol in CSF might reflect excitotoxicity in inherited metabolic disorders.

Latini A, Larovere L, de Kremer RD. Latini A, et al. Among authors: de kremer rd. Adv Exp Med Biol. 2000;486:91-5. doi: 10.1007/0-306-46843-3_18. Adv Exp Med Biol. 2000. PMID: 11783535 No abstract available.

7

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.

8

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

9

Genetic polymorphism of thiopurine S-methyltransferase in Argentina.

Laróvere LE, de Kremer RD, Lambooy LH, De Abreu RA. Laróvere LE, et al. Among authors: de kremer rd, de abreu ra. Ann Clin Biochem. 2003 Jul;40(Pt 4):388-93. doi: 10.1258/000456303766477039. Ann Clin Biochem. 2003. PMID: 12880540

10

Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency.

de Kremer RD, Latini A, Suormala T, Baumgartner ER, Laróvere L, Civallero G, Guelbert N, Paschini-Capra A, Depetris-Boldini C, Mayor CQ. de Kremer RD, et al. Metab Brain Dis. 2002 Mar;17(1):13-8. doi: 10.1023/a:1014096112916. Metab Brain Dis. 2002. PMID: 11893004

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

34 results

Search Page

Filters