Nishitha R Pillai[Author] - Search Results

Year	Number of Results
2018	1
2019	4
2020	1
2021	3
2022	4
2023	5
2024	3

1

Phenotype-autosomal recessive osteopetrosis.

Pillai NR, Aggarwal A, Orchard P. Pillai NR, et al. Bone. 2022 Dec;165:116577. doi: 10.1016/j.bone.2022.116577. Epub 2022 Oct 3. Bone. 2022. PMID: 36195244 Review.

2

Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.

Pillai NR, Ahmed A, Vanyo T, Whitley CB. Pillai NR, et al. Genes (Basel). 2022 Jul 22;13(8):1293. doi: 10.3390/genes13081293. Genes (Basel). 2022. PMID: 35893030 Free PMC article. Review.

3

Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC. Pillai NR, et al. Mol Genet Metab. 2019 Dec;128(4):431-443. doi: 10.1016/j.ymgme.2019.11.001. Epub 2019 Nov 7. Mol Genet Metab. 2019. PMID: 31757659 Free PMC article. Review.

4

MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features.

Pillai NR, Miller D, Bronken G, Salunke AK, Aggarwal A. Pillai NR, et al. Am J Med Genet A. 2022 Jul;188(7):2231-2236. doi: 10.1002/ajmg.a.62756. Epub 2022 Apr 6. Am J Med Genet A. 2022. PMID: 35385210 Free PMC article.

5

Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.

Aggarwal A, Pillai NR, Billington CJ Jr, Schema L, Berry SA. Aggarwal A, et al. Among authors: pillai nr. Am J Med Genet A. 2022 Apr;188(4):1239-1244. doi: 10.1002/ajmg.a.62608. Epub 2021 Dec 14. Am J Med Genet A. 2022. PMID: 34905296

6

Biochemical signatures of disease severity in multiple sulfatase deficiency.

Adang LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, Orchard PJ, De Castro M, Vanderver A, Pasquali M, Gelb MH, Ahrens-Nicklas RC. Adang LA, et al. Among authors: pillai nr. J Inherit Metab Dis. 2024 Mar;47(2):374-386. doi: 10.1002/jimd.12688. Epub 2023 Nov 1. J Inherit Metab Dis. 2024. PMID: 37870986

7

Parental request for familial carrier testing in early childhood: The genetic counseling perspective.

Southwick SV, MacFarlane IM, Long C, Pillai NR, Tryon R. Southwick SV, et al. Among authors: pillai nr. Clin Genet. 2024 Mar;105(3):262-272. doi: 10.1111/cge.14458. Epub 2023 Nov 23. Clin Genet. 2024. PMID: 37994684

8

Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function.

Pillai NR, Elsbecker SA, Gupta AO, Lund TC, Orchard PJ, Braunlin E. Pillai NR, et al. Mol Genet Metab. 2023 Nov;140(3):107669. doi: 10.1016/j.ymgme.2023.107669. Epub 2023 Jul 27. Mol Genet Metab. 2023. PMID: 37542767

9

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.

Pillai NR, Miller D, Pierpont EI, Berry SA, Aggarwal A. Pillai NR, et al. Am J Med Genet A. 2021 Jun;185(6):1870-1874. doi: 10.1002/ajmg.a.62170. Epub 2021 Mar 17. Am J Med Genet A. 2021. PMID: 33729671

10

Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.

Pillai NR, Fabie NAV, Kaye TV, Rosendahl SD, Ahmed A, Hietala AD, Jorgenson AB, Lanpher BC, Whitley CB. Pillai NR, et al. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107633. doi: 10.1016/j.ymgme.2023.107633. Epub 2023 Jun 25. Mol Genet Metab. 2023. PMID: 37414610

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