Sarah Mathai
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Explore the profile of Sarah Mathai including associated specialties, affiliations and a list of published articles.
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41
Citations
244
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Recent Articles
1.
Manoh J, Kumar M, Mathai S, Varkki S
Indian J Pediatr
. 2025 Jan;
PMID: 39853622
No abstract available.
2.
Chiramel M, George A, Sathishkumar D, Simon A, Mathai S
Pediatr Dermatol
. 2024 Dec;
PMID: 39716449
Vitamin D-dependent rickets type 2A (VDDR2A) is a rare cause of infantile-onset alopecia, characterized by severe hypotrichosis, small cutaneous cysts, early-onset treatment-resistant rickets, and hypocalcemia. Alopecia, often starting a few...
3.
Ravichandran L, Paul S, Rekha A, Varghese D, Parthiban R, Asha H, et al.
Indian J Pediatr
. 2024 Sep;
PMID: 39302536
Objectives: Whole exome sequencing (WES) has emerged as the preferred method for diagnosing a range of Mendelian disorders. Nonetheless, the applicability of WES in genetic diagnosis of 21-hydroxylase deficiency (21-OHD)...
4.
Ravichandran L, Asha H, Mathai S, Thomas N, Chapla A
Indian J Endocrinol Metab
. 2024 Jun;
28(2):117-128.
PMID: 38911104
Congenital adrenal hyperplasia (CAH) comprises a heterogeneous group of autosomal recessive disorders impairing adrenal steroidogenesis. Most cases are caused by mutations in the gene resulting in 21-hydroxylase (21-OH) deficiency (21-OHD)....
5.
Almahmoud R, Hussein A, Khaja F, Soliman A, Dewedar H, Al Shareef Z, et al.
BMC Pediatr
. 2024 Apr;
24(1):244.
PMID: 38580952
Background: β-Thalassemia major (BTM) is one of the most common hereditary anemias worldwide. Patients suffer from iron overload that results from repeated blood transfusion This in turn leads to multiple...
6.
Ravichandran L, Paul S, A R, Hs A, Mathai S, Simon A, et al.
Endocrine
. 2024 Mar;
85(1):363-369.
PMID: 38441846
Purpose: Congenital Adrenal Hyperplasia (CAH) is one of the highly prevalent autosomal recessive endocrine disorders. The majority of CAH cases result from mutations in the CYP21A2 gene, leading to 21-hydroxylase...
7.
Harriet G, Korula S, Rebekah G, Kapoor N, Cherian K, Jose A, et al.
Indian J Endocrinol Metab
. 2023 Aug;
27(3):242-248.
PMID: 37583403
Background: The data on the bone mineral density (BMD) and bone turnover markers (BTMs) in Indian adolescents are limited. Objectives: To assess BMD at lumbar spine (LS, L1-L4) and femoral...
8.
Hokken-Koelega A, van der Steen M, Boguszewski M, Cianfarani S, Dahlgren J, Horikawa R, et al.
Endocr Rev
. 2023 Jan;
44(3):539-565.
PMID: 36635911
This International Consensus Guideline was developed by experts in the field of small for gestational age (SGA) of 10 pediatric endocrine societies worldwide. A consensus meeting was held and 1300...
9.
Sarkar S, Korula S, Mathai S, Simon A, Balakrishnan R, Backianathan S, et al.
Childs Nerv Syst
. 2022 Aug;
38(10):1877-1883.
PMID: 35945339
Objective: Incomplete surgical removal of craniopharyngiomas frequently results in suboptimal oncological control. Radiation therapy is usually offered in these cases to prevent local recurrence of disease; however, the efficacy of...
10.
Korula S, Ravichandran L, Paul P, Johnson J, Chapla A, Santhanam S, et al.
Indian J Endocrinol Metab
. 2022 Jun;
26(1):79-86.
PMID: 35662751
Aim And Objectives: 1. To study the clinical outcome, growth and glycaemic control, 2. To study the frequency and type of genetic mutations. Methods: This is a retrospective study with...