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Leighann J Sremba

TitleSenior Instructor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Sremba L, McCandless S, Baker P. Concerning "Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes" by Farwell Gonzalez et al. J Inherit Metab Dis. 2020 03; 43(2):157-158. PMID: 31378948.
      View in: PubMed
    2. Bush D, Sremba L, Lomax K, Lipsett J, Ketteridge D, Bratkovic D, Enchautegui-Colon Y, Weisfeld-Adams J, Galambos C, Lummus S, Wartchow E, Weinman J, Liptzin DR, Baker P. Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I. JIMD Rep. 2019; 43:71-77. PMID: 29654546.
      View in: PubMed
    3. Sremba LJ, Chang RC, Elbalalesy NM, Cambray-Forker EJ, Abdenur JE. Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. Mol Genet Metab Rep. 2014; 1:368-372. PMID: 27896110.
      View in: PubMed
    4. Deeb KK, Bedoyan JK, Wang R, Sremba L, Schroeder MC, Grahame GJ, Boyer M, McCandless SE, Kerr DS, Zhang S. Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency. Mol Genet Metab Rep. 2014; 1:362-367. PMID: 27896109.
      View in: PubMed
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