Leighann Sremba, MS, CGC
Sr. Instructor, Pediatrics-Clinical Genetics and Metabolism

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Languages: English
Department: Pediatrics-Clinical Genetics and Metabolism

Publications

  • Sremba L, McCandless S, Baker P 2nd. 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 Mar;43(2):157-158. PubMed PMID: 31378948
  • Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis. J Inherit Metab Dis. 2020 Dec 9. [Epub ahead of print] PubMed PMID: 33295057
  • 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 2nd. Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I. JIMD Rep. 2018 Apr 14. [Epub ahead of print] PubMed PMID: 29654546

Professional Memberships

  • NSGC, member

Practice Locations

Children's Hospital Colorado Anschutz Medical Campus
13123 East 16th Ave
Aurora, CO 80045
720-777-1234

Specialty Information

Specialties
  • Clinical Genetics and Genomics (MD), Board Certification

General Information

Languages: English
Department: Pediatrics-Clinical Genetics and Metabolism
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