Jayesh Sheth

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 13

Top Venues

BMC pediatrics

BMC medical genetics

JIMD reports

JMIR public health and surveillance

Sheth Vadilal Sarabhai General Hospital and Sheth Chinai Maternity Hospital

Institute for Research In Reproduction (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Sheth Vadilal Sarabhai General Hospital and Sheth Chinai Maternity Hospital Jan 01 1989 - Mar 10 2008

India

Associate Professor :: Endocrinology

Education History

Institute for Research In Reproduction Mar 15 1979 - Apr 18 1983

India

PHD :: Biochemistry

Publications

Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature. JIMD reports 65 (2) (2024)
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature. JIMD reports 65 (2) (2024)
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Heli Shah, Naresh Tayade, C Ratna Prabha, Frenny Sheth, Harsh J Sheth
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India. JIMD reports 64 (4) (2023)
Jayesh Sheth, Siddharth Shah, Chaitanya Datar, Kaveri Bhatt, Pooja Raval, Aadhira Nair, Deepika Jain, Jhanvi Shah, Frenny Sheth, Harsh Sheth
Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review. BMC pediatrics 23 (1) (2023)
Jayesh Sheth, Siddharth Shah, Chaitanya Datar, Kaveri Bhatt, Pooja Raval, Aadhira Nair, Deepika Jain, Jhanvi Shah, Frenny Sheth, Harsh Sheth
Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review. BMC pediatrics 23 (1) (2023)
Rama Vaidya, Ashok D B Vaidya, Jayesh Sheth, Shashank Jadhav, Umakant Mahale, Dilip Mehta, Janusz Popko, Vladimir Badmaev, Sidney J Stohs
Vitamin K Insufficiency in the Indian Population: Pilot Observational Epidemiology Study. JMIR public health and surveillance 8 (2) (2022)
Parag M Tamhankar, Lakshmi Vasudevan, Pratima Kondurkar, Sarfaraj Niazi, Rita Christopher, Dhaval Solanki, Pooja Dholakia, Mamta Muranjan, Mahesh Kamate, Umesh Kalane, Jayesh Sheth, Vasundhara Tamhankar, Reena Gulati, Madhavi Vasikarla, Sumita Danda, Shaik M Naushad, Katta M Girisha, Shekhar Patil
Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1. Journal of pediatric genetics 10 (3) (2020)
Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC medical genetics 20 (1) (2019)
Jayesh Sheth, Akash Patel, Raju Shah, Riddhi Bhavsar, Sunil Trivedi, Frenny Sheth
Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review. BMC pediatrics 19 (1) (2019)
Jayesh Sheth, Mehul Mistri, Lakshmi Mahadevan, Sanjeev Mehta, Dhaval Solanki, Mahesh Kamate, Frenny Sheth
Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India. BMC medical genetics 19 (1) (2018)
Jayesh Sheth, Dhairya Pancholi, Mehul Mistri, Payal Nath, Chitra Ankleshwaria, Riddhi Bhavsar, Ratna Puri, Shubha Phadke, Frenny Sheth
Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India. BMC medical genetics 19 (1) (2018)
Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri, Frenny Sheth
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature. BMC medical genetics 18 (1) (2017)
Jayesh Sheth, Chaitanya Datar, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth, Krati Shah
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review. BMC pediatrics 16 (2016)

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Publication Activity (10 Years)

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Jayesh Sheth