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Rebecca Mardach

TitleAssociate Professor
InstitutionUniversity of California Davis
DepartmentGeneral Pediatrics
Address2516 Stockton Blvd
CA 95817
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Mullegama SV, Klein SD, Nguyen DC, Kim A, Signer R, Fox M, Dorrani N, Hendershot A, Mardach R, Suddath R, Dipple K, Vilain E, Wong DA, Deignan JL, D Cederbaum S, Grody WW, Martinez-Agosto JA. Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genet Med. 2017 Dec; 19(12). PMID: 28933790.
      View in: PubMed
    2. Smith L, Rhead W, Charrow J, Shankar SP, Bavdekar A, Longo N, Mardach R, Harmatz P, Hangartner T, Lee HM, Crombez E, Pastores GM. Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase. Mol Genet Metab. 2016 Feb; 117(2):164-71. PMID: 26043810.
      View in: PubMed
    3. Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA. Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol. 2013 Mar; 88(3):172-8. PMID: 23339116; PMCID: PMC3586535.
    4. Reddy KS, Mardach R, Bass H. Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32. Cytogenet Genome Res. 2011; 132(1-2):113-20. PMID: 20714122.
      View in: PubMed
    5. Zhang S, Li FY, Bass HN, Pursley A, Schmitt ES, Brown BL, Brundage EK, Mardach R, Wong LJ. Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion. Mol Genet Metab. 2010 Jan; 99(1):53-7. PMID: 19815440.
      View in: PubMed
    6. Pancrudo J, Shanske S, Coku J, Lu J, Mardach R, Akman O, Krishna S, Bonilla E, DiMauro S. Mitochondrial myopathy associated with a novel mutation in mtDNA. Neuromuscul Disord. 2007 Aug; 17(8):651-4. PMID: 17588757; PMCID: PMC2699619.
    7. Camacho JA, Mardach R, Rioseco-Camacho N, Ruiz-Pesini E, Derbeneva O, Andrade D, Zaldivar F, Qu Y, Cederbaum SD. Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatr Res. 2006 Oct; 60(4):423-9. PMID: 16940241.
      View in: PubMed
    8. Mardach R, Verity MA, Cederbaum SD. Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. Mol Genet Metab. 2005 Aug; 85(4):286-90. PMID: 15939644.
      View in: PubMed
    9. Mardach R, Zempleni J, Wolf B, Cannon MJ, Jennings ML, Cress S, Boylan J, Roth S, Cederbaum S, Mock DM. Biotin dependency due to a defect in biotin transport. J Clin Invest. 2002 Jun; 109(12):1617-23. PMID: 12070309; PMCID: PMC151007.
    10. Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L. Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. Mol Genet Metab. 1998 Dec; 65(4):264-71. PMID: 9889013.
      View in: PubMed
    11. Pomponio RJ, Hymes J, Pandya A, Landa B, Melone P, Javaheri R, Mardach R, Morton SW, Meyers GA, Reynolds T, Buck G, Nance WE, Wolf B. Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses. Prenat Diagn. 1998 Feb; 18(2):117-22. PMID: 9516011.
      View in: PubMed
    12. Bass HN, LaGrave D, Mardach R, Cederbaum SD, Fuster CD, Chetty M. Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria. J Inherit Metab Dis. 1997 Nov; 20(6):831-2. PMID: 9427154.
      View in: PubMed