Starosta RT - Search Results

1

Predicting liver fibrosis in Gaucher disease: Investigation of contributors and development of a clinically applicable Gaucher liver fibrosis score.

Starosta RT, Ferraro LC, de Mattos GP, Teixeira LF, Poswar FO, Michalczuk M, Álvares-da-Silva MR, Schwartz IVD. Starosta RT, et al. Mol Genet Metab. 2025 Jan 3:109010. doi: 10.1016/j.ymgme.2025.109010. Online ahead of print. Mol Genet Metab. 2025. PMID: 39788861

2

An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.

Starosta RT, Larson AA, Meeks NJL, Gracie S, Friederich MW, Gaughan SM, Baker PR 2nd, Knupp KG, Michel CR, Reisdorph R, Hock DH, Stroud DA, Wood T, Van Hove JLK. Starosta RT, et al. Mitochondrion. 2024 Nov;79:101973. doi: 10.1016/j.mito.2024.101973. Epub 2024 Oct 15. Mitochondrion. 2024. PMID: 39413893

3

Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome.

Starosta RT, Jensen N, Couteranis S, Slaugh R, Easterlin D, Tate V, Sams EI, Valle K, Akinwe T, Hou YC, Turner TN, Cole FS, Milbrandt J, Dickson P. Starosta RT, et al. Eur J Hum Genet. 2024 Sep;32(9):1095-1105. doi: 10.1038/s41431-024-01667-y. Epub 2024 Jul 7. Eur J Hum Genet. 2024. PMID: 38972963

4

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.

Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E. Lam C, et al. Among authors: starosta rt. Mol Genet Metab. 2024 Aug;142(4):108509. doi: 10.1016/j.ymgme.2024.108509. Epub 2024 Jun 6. Mol Genet Metab. 2024. PMID: 38959600

5

D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG).

Starosta RT, Lee AJ, Toolan ER, He M, Wongkittichote P, Daniel EJP, Radenkovic S, Budhraja R, Pandey A, Sharma J, Morava E, Nguyen H, Dickson PI. Starosta RT, et al. Mol Genet Metab. 2024 Jun;142(2):108488. doi: 10.1016/j.ymgme.2024.108488. Epub 2024 May 9. Mol Genet Metab. 2024. PMID: 38735264

6

Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome.

Wilke MVMB, Wick M, Schwab TL, Starosta RT, Clark KJ, Connolly HM, Klee EW. Wilke MVMB, et al. Among authors: starosta rt. Genes (Basel). 2024 Jan 18;15(1):112. doi: 10.3390/genes15010112. Genes (Basel). 2024. PMID: 38255001 Free PMC article.

7

PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.

Starosta RT, Kerashvili N, Pruitt C, Schultz MJ, Boyer SW, Morava E, Lasio MLD, Grange DK. Starosta RT, et al. JIMD Rep. 2023 Sep 20;64(6):424-433. doi: 10.1002/jmd2.12396. eCollection 2023 Nov. JIMD Rep. 2023. PMID: 37927489 Free PMC article.

8

A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.

Wilke MVMB, de Oliveira BM, Starosta RT, Shinawi M, Lu L, He M, Ma Y, Stoll J, de Souza CFM, de Siqueira ACM, Vieira SMG, Cerski CT, Refosco LF, Schwartz IVD. Wilke MVMB, et al. Among authors: starosta rt. Biomedicines. 2023 Jan 26;11(2):363. doi: 10.3390/biomedicines11020363. Biomedicines. 2023. PMID: 36830903 Free PMC article.

9

Primary Mitochondrial Disorders in the Neonate.

Starosta RT, Shinawi M. Starosta RT, et al. Neoreviews. 2022 Dec 1;23(12):e796-e812. doi: 10.1542/neo.23-12-e796. Neoreviews. 2022. PMID: 36450643 Review.

10

Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations.

Starosta RT, Hou YC, Leestma K, Singh P, Viehl L, Manwaring L, Granadillo JL, Schroeder MC, Colombo JN, Whitehead H, Dickson PI, Hulbert ML, Nguyen HT. Starosta RT, et al. Front Pediatr. 2022 Sep 28;10:944178. doi: 10.3389/fped.2022.944178. eCollection 2022. Front Pediatr. 2022. PMID: 36245745 Free PMC article.

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