Leighann Sremba, MS, CGC

Publications

• Sremba LJ, Bush D, Enchautegui-Colon Y, Weisfeld-Adams J, Sherlock L, Galambos C, Lummus S, Wartchow E, Liptzin D, Baker P. Evaluation of chILD syndrome leads to early diagnosis of MPS I. Presented at the 39th Annual Meeting of the Society for Inherited Metabolic Disorders. April 2016, Ponte Vedra Beach, Florida Mol Genet Metab 2016 Mar;117:289.
• 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
• 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. 2019 Aug 4. [Epub ahead of print] PubMed PMID: 31378948
• 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. 2019;43:71-77. PubMed PMID: 29654546
• 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
• 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 2nd. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. J Inherit Metab Dis. 2021 Oct 9. [Epub ahead of print] PubMed PMID: 34625984
• 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. 2021 May;44(3):677-692. PubMed PMID: 33295057
• 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 2nd. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. J Inherit Metab Dis. 2022 Mar;45(2):157-168. PubMed PMID: 34625984
• 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 2nd. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. J Inherit Metab Dis. 2022 Mar;45(2):157-168. PubMed PMID: 34625984
• Cystathionine ß-synthase deficiency in the E-HOD registry-part II: Dietary and pharmacological treatment Morris et al.

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