Rinaldo P - Search Results

1

Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.

Fu X, Rinaldo P, Hahn SH, Kodama H, Packman S. Fu X, et al. Among authors: rinaldo p. J Inherit Metab Dis. 2003;26(1):55-66. doi: 10.1023/a:1024027630589. J Inherit Metab Dis. 2003. PMID: 12872841

2

Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.

Yoon HR, Hahn SH, Ahn YM, Jang SH, Shin YJ, Lee EH, Ryu KH, Eun BL, Rinaldo P, Yamaguchi S. Yoon HR, et al. Among authors: rinaldo p. J Inherit Metab Dis. 2001 Dec;24(8):870-3. doi: 10.1023/a:1013948409790. J Inherit Metab Dis. 2001. PMID: 11916321 Clinical Trial.

3

Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy.

Fries MH, Rinaldo P, Schmidt-Sommerfeld E, Jurecki E, Packman S. Fries MH, et al. Among authors: rinaldo p. J Pediatr. 1996 Sep;129(3):449-52. doi: 10.1016/s0022-3476(96)70081-1. J Pediatr. 1996. PMID: 8804338

4

Clinical biochemical genetics in the twenty-first century.

Rinaldo P, Hahn S, Matern D. Rinaldo P, et al. Acta Paediatr Suppl. 2004 May;93(445):22-6; discussion 27. doi: 10.1111/j.1651-2227.2004.tb03051.x. Acta Paediatr Suppl. 2004. PMID: 15176715

5

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M. Tiranti V, et al. Among authors: rinaldo p. Am J Hum Genet. 2004 Feb;74(2):239-52. doi: 10.1086/381653. Epub 2004 Jan 19. Am J Hum Genet. 2004. PMID: 14732903 Free PMC article.

6

Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.

Hahn SH, Lee EH, Jung JW, Hong CH, Yoon HR, Rinaldo P, Sims H, Gibson B, Strauss AW. Hahn SH, et al. Among authors: rinaldo p. J Pediatr. 1999 Aug;135(2 Pt 1):250-3. doi: 10.1016/s0022-3476(99)70030-2. J Pediatr. 1999. PMID: 10431122

7

Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.

Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH. Ensenauer R, et al. Among authors: rinaldo p. Genet Med. 2005 May-Jun;7(5):339-43. doi: 10.1097/01.gim.0000164548.54482.9d. Genet Med. 2005. PMID: 15915086 Free article.

8

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.

Tortorelli S, Hahn SH, Cowan TM, Brewster TG, Rinaldo P, Matern D. Tortorelli S, et al. Among authors: rinaldo p. Mol Genet Metab. 2005 Feb;84(2):137-43. doi: 10.1016/j.ymgme.2004.09.016. Epub 2004 Nov 19. Mol Genet Metab. 2005. PMID: 15670719

9

Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.

Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH. Kramer KA, et al. Among authors: rinaldo p. Clin Chem. 2005 Nov;51(11):2110-6. doi: 10.1373/clinchem.2005.050146. Epub 2005 Sep 1. Clin Chem. 2005. PMID: 16141288

10

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D. Magera MJ, et al. Among authors: rinaldo p. Mol Genet Metab. 2006 May;88(1):16-21. doi: 10.1016/j.ymgme.2005.12.005. Epub 2006 Jan 31. Mol Genet Metab. 2006. PMID: 16448836

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