Sremba L - Search Results

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Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

Deeb KK, Bedoyan JK, Wang R, Sremba L, Schroeder MC, Grahame GJ, Boyer M, McCandless SE, Kerr DS, Zhang S. Deeb KK, et al. Among authors: sremba l. Mol Genet Metab Rep. 2014 Aug 28;1:362-367. doi: 10.1016/j.ymgmr.2014.08.001. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896109 Free PMC article.

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.

Sremba L, McCandless S, Baker P 2nd. Sremba L, et al. J Inherit Metab Dis. 2020 Mar;43(2):157-158. doi: 10.1002/jimd.12148. Epub 2019 Aug 4. J Inherit Metab Dis. 2020. PMID: 31378948 No abstract available.

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.

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. Kripps KA, et al. Among authors: sremba l. J Inherit Metab Dis. 2022 Mar;45(2):157-168. doi: 10.1002/jimd.12448. Epub 2021 Oct 21. J Inherit Metab Dis. 2022. PMID: 34625984

Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.

Sremba LJ, Chang RC, Elbalalesy NM, Cambray-Forker EJ, Abdenur JE. Sremba LJ, et al. Mol Genet Metab Rep. 2014 Aug 28;1:368-372. doi: 10.1016/j.ymgmr.2014.07.008. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896110 Free PMC article.

Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I.

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. Bush D, et al. Among authors: sremba l. JIMD Rep. 2019;43:71-77. doi: 10.1007/8904_2018_101. Epub 2018 Apr 14. JIMD Rep. 2019. PMID: 29654546 Free PMC article.

Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M; E-HOD consortium. Kožich V, et al. J Inherit Metab Dis. 2021 May;44(3):677-692. doi: 10.1002/jimd.12338. Epub 2020 Dec 28. J Inherit Metab Dis. 2021. PMID: 33295057 Free PMC article.

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