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Divya Pachat

Explore the profile of Divya Pachat including associated specialties, affiliations and a list of published articles. Areas
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Articles 15
Citations 28
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Recent Articles
1.
Sherin S, Soodhana D, Mohanlal S, Pachat D
Cureus . 2025 Jan; 16(12):e75146. PMID: 39759686
Neonatal hypoglycemia (NH) is a common abnormality in newborns, posing significant morbidity risks. Prompt diagnosis and treatment are vital to mitigate brain damage and enhance outcomes. Congenital hyperinsulinemia (CHI) is...
2.
Rahman R, T H, Mohanlal S, Pachat D, Kuruvilla S, Sharma S
Pediatr Nephrol . 2024 Dec; PMID: 39708126
Tripartite motif-containing 8 (TRIM8) gene mutations are associated with autosomal dominantly inherited neurorenal syndrome. The kidney manifestations range from nephrotic range proteinuria to nephrotic syndrome and kidney failure. The histopathology...
3.
Rahman R, Raghavan V, Pachat D
Pediatr Nephrol . 2024 Dec; 40(4):951-953. PMID: 39621115
A 3-month-old girl presented with symptoms indicative of dysuria, gross hematuria, chronic diarrhea, and nephrocalcinosis. She was born to fourth-degree consanguineous parents. The infant exhibited hypercalciuria and hyperoxaluria, and her...
4.
Veetil V, Pachat D, Nikitha K, Kutty J
Natl Med J India . 2024 May; 36(5):314-315. PMID: 38759983
We report a 26-year-old girl who was diagnosed with diabetes mellitus in her childhood and was treated with insulin. With a history of visual disturbances during her childhood and anaemia,...
5.
Balaji A, Mohanlal S, Pachat D, Babu S, Kumar E, Mamukoya N, et al.
Ann Indian Acad Neurol . 2023 Nov; 26(5):723-727. PMID: 38022486
Introduction: The recent evolution of genomics has led to the development of targeted therapeutics, revolutionizing medical approaches. This study aimed to assess the impact of genetic testing on the current...
6.
Engal E, Oja K, Maroofian R, Geminder O, Le T, Marzin P, et al.
Am J Hum Genet . 2023 Nov; 110(12):2112-2119. PMID: 37963460
Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal complex and has not...
7.
Bhattad S, Mohite R, Singh N, Kotecha U, Jhawar P, Ramprakash S, et al.
Clin Exp Med . 2023 Oct; 23(8):5399-5412. PMID: 37898571
Primary immune deficiencies or inborn errors of immunity (IEI) are a heterogeneous group of disorders that predispose affected individuals to infections, allergy, autoimmunity, autoinflammation and malignancies. IEIs are increasingly being...
8.
Engal E, Oja K, Maroofian R, Geminder O, Le T, Mor E, et al.
medRxiv . 2023 Jul; PMID: 37425688
Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WBP4 (WW Domain Binding Protein 4) is part of the early spliceosomal complex, and was...
9.
Krishnadas N, Abdulla M, Pachat D
Ann Indian Acad Neurol . 2022 Oct; 25(4):771-772. PMID: 36211168
No abstract available.
10.
Philip A, Sureshbabu S, Nikitha K, Pachat D, Janardhanan S, Narayanan R, et al.
Acta Neurol Belg . 2022 Mar; 123(2):637-639. PMID: 35290622
No abstract available.