Diaz G - Search Results

1

Skin lesions in a patient with Cobalamin C disease in poor metabolic control.

Prasun P, Chapel-Crespo C, Williamson A, Chu P, Oishi K, Diaz G. Prasun P, et al. Among authors: diaz g. J Inherit Metab Dis. 2018 Mar;41(2):279-280. doi: 10.1007/s10545-017-0102-y. Epub 2017 Nov 2. J Inherit Metab Dis. 2018. PMID: 29098535 Free PMC article. No abstract available.

2

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.

Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Diaz GA, et al. Nat Genet. 1999 Jul;22(3):309-12. doi: 10.1038/10385. Nat Genet. 1999. PMID: 10391223

3

Slc19a2: cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene.

Oishi K, Hirai T, Gelb BD, Diaz GA. Oishi K, et al. Among authors: diaz ga. Mol Genet Metab. 2001 Jun;73(2):149-59. doi: 10.1006/mgme.2001.3184. Mol Genet Metab. 2001. PMID: 11386850

4

Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice.

Oishi K, Hofmann S, Diaz GA, Brown T, Manwani D, Ng L, Young R, Vlassara H, Ioannou YA, Forrest D, Gelb BD. Oishi K, et al. Hum Mol Genet. 2002 Nov 1;11(23):2951-60. doi: 10.1093/hmg/11.23.2951. Hum Mol Genet. 2002. PMID: 12393806

5

Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis.

Oishi K, Barchi M, Au AC, Gelb BD, Diaz GA. Oishi K, et al. Dev Biol. 2004 Feb 15;266(2):299-309. doi: 10.1016/j.ydbio.2003.10.026. Dev Biol. 2004. PMID: 14738878 Free article.

6

Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance.

Weisfeld-Adams JD, McCourt EA, Diaz GA, Oliver SC. Weisfeld-Adams JD, et al. Mol Genet Metab. 2015 Apr;114(4):537-46. doi: 10.1016/j.ymgme.2015.01.012. Epub 2015 Feb 19. Mol Genet Metab. 2015. PMID: 25742969 Review.

7

Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management.

Oishi K, Arnon R, Wasserstein MP, Diaz GA. Oishi K, et al. Pediatr Transplant. 2016 Sep;20(6):756-69. doi: 10.1111/petr.12741. Epub 2016 Jun 21. Pediatr Transplant. 2016. PMID: 27329540 Free PMC article. Review.

8

Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Shi L, Webb BD, Birch AH, Elkhoury L, McCarthy J, Cai X, Oishi K, Mehta L, Diaz GA, Edelmann L, Kornreich R. Shi L, et al. Among authors: diaz ga. Clin Genet. 2017 Apr;91(4):599-604. doi: 10.1111/cge.12834. Epub 2016 Aug 22. Clin Genet. 2017. PMID: 27415407 Free PMC article.

9

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD. Larson AA, et al. Among authors: diaz ga. Mitochondrion. 2019 Jan;44:58-64. doi: 10.1016/j.mito.2018.01.001. Epub 2018 Jan 4. Mitochondrion. 2019. PMID: 29307858 Free PMC article.

10

Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.

Chapel-Crespo CC, Diaz GA, Oishi K. Chapel-Crespo CC, et al. Expert Rev Endocrinol Metab. 2016;11(6):467-473. doi: 10.1080/17446651.2016.1239526. Epub 2016 Sep 28. Expert Rev Endocrinol Metab. 2016. PMID: 30034506 Free PMC article.

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