Gupta D - Search Results

1

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.

Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC. Gupta D, et al. Among authors: gupta n. Genet Test Mol Biomarkers. 2016 Jul;20(7):373-82. doi: 10.1089/gtmb.2016.0017. Epub 2016 May 26. Genet Test Mol Biomarkers. 2016. PMID: 27227689

2

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

Gupta D, Bijarnia-Mahay S, Saxena R, Kohli S, Dua-Puri R, Verma J, Thomas E, Shigematsu Y, Yamaguchi S, Deb R, Verma IC. Gupta D, et al. Eur J Med Genet. 2015 Sep;58(9):471-8. doi: 10.1016/j.ejmg.2015.08.002. Epub 2015 Aug 7. Eur J Med Genet. 2015. PMID: 26257134

3

Ethylmalonic Encephalopathy in an Indian Boy.

Bijarnia-Mahay S, Gupta D, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Among authors: gupta d. Indian Pediatr. 2016 Oct 8;53(10):914-916. doi: 10.1007/s13312-016-0959-0. Indian Pediatr. 2016. PMID: 27771676 Free article.

4

Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).

Bhai P, Bijarnia-Mahay S, Puri RD, Saxena R, Gupta D, Kotecha U, Sachdev A, Gupta D, Vyas V, Agarwal D, Jain V, Bansal RK, Kumar TG, Verma IC. Bhai P, et al. Among authors: gupta d. Ann Hum Genet. 2018 Sep;82(5):309-317. doi: 10.1111/ahg.12256. Epub 2018 May 18. Ann Hum Genet. 2018. PMID: 29774539

5

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Bijarnia-Mahay S, Häberle J, Jalan AB, Puri RD, Kohli S, Kudalkar K, Rüfenacht V, Gupta D, Maurya D, Verma J, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Among authors: gupta d. Orphanet J Rare Dis. 2018 Oct 1;13(1):174. doi: 10.1186/s13023-018-0908-1. Orphanet J Rare Dis. 2018. PMID: 30285816 Free PMC article.

6

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients.

Arora V, Setia N, Dalal A, Vanaja MC, Gupta D, Razdan T, Phadke SR, Saxena R, Rohtagi A, Verma IC, Puri RD. Arora V, et al. Among authors: gupta d. Mol Genet Metab Rep. 2020 Jan 11;22:100561. doi: 10.1016/j.ymgmr.2019.100561. eCollection 2020 Mar. Mol Genet Metab Rep. 2020. PMID: 31956508 Free PMC article.

7

Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred.

Mishra R, Jain V, Gupta D, Saxena R, Kulshreshtha S, Ramprasad VL, Verma IC, Dua Puri R. Mishra R, et al. Among authors: gupta d. Mol Syndromol. 2020 Feb;11(1):43-49. doi: 10.1159/000505506. Epub 2020 Jan 17. Mol Syndromol. 2020. PMID: 32256301 Free PMC article.

8

Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II.

Sandal S, Mahay SB, Gupta D, Saxena R, Verma J, Saxena KK, Puri RD. Sandal S, et al. Among authors: gupta d. Clin Dysmorphol. 2022 Jan 1;31(1):23-27. doi: 10.1097/MCD.0000000000000388. Clin Dysmorphol. 2022. PMID: 34561315 No abstract available.

9

Implications of a Genetic Etiology for Renal Transplant: Early-Onset Alport Syndrome with a Novel Mutation.

Singh RK, Arora V, Tiwari V, Gupta D, Gupta A, Puri RD. Singh RK, et al. Among authors: gupta a, gupta d. J Pediatr Genet. 2020 Jul 27;10(4):331-334. doi: 10.1055/s-0040-1714363. eCollection 2021 Dec. J Pediatr Genet. 2020. PMID: 34849282 Free PMC article.

10

CEDNIK Syndrome - A Report of a Clinically Recognizable Disorder with Prenatal Diagnosis.

Bijarnia-Mahay S, Bhatia S, Gupta D, Sud A, Dubey S, Saxena R. Bijarnia-Mahay S, et al. Among authors: gupta d. Indian J Pediatr. 2024 Aug;91(8):874. doi: 10.1007/s12098-024-05086-1. Epub 2024 Mar 6. Indian J Pediatr. 2024. PMID: 38443713 No abstract available.

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