Pillai NR - Search Results

1

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.

2

Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B₁₂ Metabolism: Case Reports and Literature Review.

Mullikin D, Pillai N, Sanchez R, O'Donnell-Luria AH, Kritzer A, Tal L, Almannai M, Berry GT, Gambello MJ, Li H, Graham B, Srivaths L, Sutton VR, Grimes A. Mullikin D, et al. J Pediatr. 2018 Nov;202:315-319.e2. doi: 10.1016/j.jpeds.2018.06.054. Epub 2018 Jul 26. J Pediatr. 2018. PMID: 30057141 Review.

3

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.

Pillai NR, Marafi D, Monteiro SA, Parnes M, Chandy BM, Patel A, Bacino CA, Breman AM, Burrage LC. Pillai NR, et al. Eur J Med Genet. 2019 Jun;62(6):103531. doi: 10.1016/j.ejmg.2018.08.012. Epub 2018 Aug 22. Eur J Med Genet. 2019. PMID: 30142436

4

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.

Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA. Rossetti LZ, et al. Am J Med Genet A. 2019 Jul;179(7):1376-1382. doi: 10.1002/ajmg.a.61182. Epub 2019 May 8. Am J Med Genet A. 2019. PMID: 31069960 Free PMC article. Review.

5

Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.

Pillai NR, AlDhaheri NS, Ghosh R, Lim J, Streff H, Nayak A, Graham BH, Hanchard NA, Elsea SH, Scaglia F. Pillai NR, et al. Am J Med Genet A. 2019 Oct;179(10):2138-2143. doi: 10.1002/ajmg.a.61288. Epub 2019 Jul 10. Am J Med Genet A. 2019. PMID: 31290619

6

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.

Pillai NR, Yubero D, Shayota BJ, Oyarzábal A, Ghosh R, Sun Q, Azamian MS, Arjona C, Brandi N, Palau F, Lalani SR, Artuch R, García-Cazorla A, Scott DA. Pillai NR, et al. Am J Med Genet A. 2019 Dec;179(12):2459-2468. doi: 10.1002/ajmg.a.61357. Epub 2019 Sep 13. Am J Med Genet A. 2019. PMID: 31520464

7

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.

Pillai NR, Amin H, Gijavanekar C, Liu N, Issaq N, Broniowska KA, Bertuch AA, Sutton VR, Elsea SH, Scaglia F. Pillai NR, et al. Am J Med Genet A. 2020 Nov;182(11):2781-2787. doi: 10.1002/ajmg.a.61851. Epub 2020 Sep 10. Am J Med Genet A. 2020. PMID: 32909658

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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