 Leighann J Sremba
| Title | Senior Instructor |
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| Institution | University of Colorado Denver - Anschutz Medical Campus |
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| Department | SOM-PEDS |
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| Phone | 303/724-2344 |
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 Bibliographic
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Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. J Inherit Metab Dis. 2022 03; 45(2):157-168. PMID: 34625984.
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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.
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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.
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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.
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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.
This graph shows the total number of publications by year, by first, middle/unknown, or last author.
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| Year | Publications |
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| 2014 | 2 | | 2018 | 1 | | 2019 | 1 | | 2021 | 1 |
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