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Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

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Title: Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Authors: Sheth J; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India. jayesh.sheth@frige.co.in., Nair A; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India., Bhavsar R; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India., Kamate M; KLES Prabhakar Kore Hospital, Belgaum, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Bavdekar A; Department of Pediatrics, K.E.M Hospital, Pune, India., Kadam S; Department of Pediatrics, K.E.M Hospital, Pune, India., Nampoothiri S; Department of Paediatrics, Amrita School of Medicine, Kochi, India., Datar C; Bharati Hospital and Research Centre, Dhankawadi, Pune, India., Panigrahi I; Postgraduate Institute of Medical Education and Research, PGIMER, Chandigarh, India., Kaur A; Postgraduate Institute of Medical Education and Research, PGIMER, Chandigarh, India., Shah S; RICN Hospital, Ahmedabad, India., Mehta S; RICN Hospital, Ahmedabad, India., Jagadeesan S; Department of Clinical Genetics & Genetic Counselling, Mediscan Systems, Chennai, India., Suresh I; Department of Clinical Genetics & Genetic Counselling, Mediscan Systems, Chennai, India., Prabha CR; Department of Biochemistry, Faculty of Science, M. S. University of Baroda Vadodara, Vadodara, India., Kapoor S; Division of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College, Delhi, India., Bajaj S; The Purple Gene Clinic, Simplex Khushaangan, SV Road, Malad West, Mumbai, India., Devi RR; Rainbow Children's Hospital, Hyderabad, India., Prajapati A; Genetic Care Clinic, Ahmedabad, India., Godbole K; Deenanath Mangeshkar Hospital & Research Centre, Pune, India., Patel H; Zydus Hospital & Healthcare Research Pvt Ltd, Ahmedabad, India., Luhar Z; Civil Hospital, Asarwa, Ahmedabad, India., Shah RC; Ankur neonatal hospital, Ashram Road, Ahmedabad, India., Iyer A; Neuro Kids Clinics, Ahmedabad, India., Bijarnia-Mahay S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Puri R; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Muranjan M; Department of Pediatrics, KEM Hospital, Parel, Mumbai, India., Shah A; BJ Wadia Hospital for Children, Parel, Mumbai, India., Magar S; MGM Medical College, Aurangabad, India., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Tayade N; Department of Paediatrics, Dr. Panjabrao Deshmukh Memorial Medical College, Amravati, India., Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Jalan A; NIRMAN, Vashi, India., Solanki D; Nirmal Mantra Children's Hospital, Bhavnagar, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Sheth F; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India., Sheth H; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India. harsh.sheth@frige.co.in.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Jan 27; Vol. 21 (1), pp. 65. Date of Electronic Publication: 2026 Jan 27.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
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  Data: Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
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  Data: <searchLink fieldCode="AU" term="%22Sheth+J%22">Sheth J</searchLink>; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India. jayesh.sheth@frige.co.in.<br /><searchLink fieldCode="AU" term="%22Nair+A%22">Nair A</searchLink>; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Bhavsar+R%22">Bhavsar R</searchLink>; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Kamate+M%22">Kamate M</searchLink>; KLES Prabhakar Kore Hospital, Belgaum, India.<br /><searchLink fieldCode="AU" term="%22Gowda+VK%22">Gowda VK</searchLink>; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Bavdekar+A%22">Bavdekar A</searchLink>; Department of Pediatrics, K.E.M Hospital, Pune, India.<br /><searchLink fieldCode="AU" term="%22Kadam+S%22">Kadam S</searchLink>; Department of Pediatrics, K.E.M Hospital, Pune, India.<br /><searchLink fieldCode="AU" term="%22Nampoothiri+S%22">Nampoothiri S</searchLink>; Department of Paediatrics, Amrita School of Medicine, Kochi, India.<br /><searchLink fieldCode="AU" term="%22Datar+C%22">Datar C</searchLink>; Bharati Hospital and Research Centre, Dhankawadi, Pune, India.<br /><searchLink fieldCode="AU" term="%22Panigrahi+I%22">Panigrahi I</searchLink>; Postgraduate Institute of Medical Education and Research, PGIMER, Chandigarh, India.<br /><searchLink fieldCode="AU" term="%22Kaur+A%22">Kaur A</searchLink>; Postgraduate Institute of Medical Education and Research, PGIMER, Chandigarh, India.<br /><searchLink fieldCode="AU" term="%22Shah+S%22">Shah S</searchLink>; RICN Hospital, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Mehta+S%22">Mehta S</searchLink>; RICN Hospital, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Jagadeesan+S%22">Jagadeesan S</searchLink>; Department of Clinical Genetics & Genetic Counselling, Mediscan Systems, Chennai, India.<br /><searchLink fieldCode="AU" term="%22Suresh+I%22">Suresh I</searchLink>; Department of Clinical Genetics & Genetic Counselling, Mediscan Systems, Chennai, India.<br /><searchLink fieldCode="AU" term="%22Prabha+CR%22">Prabha CR</searchLink>; Department of Biochemistry, Faculty of Science, M. 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University of Baroda Vadodara, Vadodara, India.<br /><searchLink fieldCode="AU" term="%22Kapoor+S%22">Kapoor S</searchLink>; Division of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College, Delhi, India.<br /><searchLink fieldCode="AU" term="%22Bajaj+S%22">Bajaj S</searchLink>; The Purple Gene Clinic, Simplex Khushaangan, SV Road, Malad West, Mumbai, India.<br /><searchLink fieldCode="AU" term="%22Devi+RR%22">Devi RR</searchLink>; Rainbow Children's Hospital, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Prajapati+A%22">Prajapati A</searchLink>; Genetic Care Clinic, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Godbole+K%22">Godbole K</searchLink>; Deenanath Mangeshkar Hospital & Research Centre, Pune, India.<br /><searchLink fieldCode="AU" term="%22Patel+H%22">Patel H</searchLink>; Zydus Hospital & Healthcare Research Pvt Ltd, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Luhar+Z%22">Luhar Z</searchLink>; Civil Hospital, Asarwa, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Shah+RC%22">Shah RC</searchLink>; Ankur neonatal hospital, Ashram Road, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Iyer+A%22">Iyer A</searchLink>; Neuro Kids Clinics, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Bijarnia-Mahay+S%22">Bijarnia-Mahay S</searchLink>; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Puri+R%22">Puri R</searchLink>; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Muranjan+M%22">Muranjan M</searchLink>; Department of Pediatrics, KEM Hospital, Parel, Mumbai, India.<br /><searchLink fieldCode="AU" term="%22Shah+A%22">Shah A</searchLink>; BJ Wadia Hospital for Children, Parel, Mumbai, India.<br /><searchLink fieldCode="AU" term="%22Magar+S%22">Magar S</searchLink>; MGM Medical College, Aurangabad, India.<br /><searchLink fieldCode="AU" term="%22Gupta+N%22">Gupta N</searchLink>; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Tayade+N%22">Tayade N</searchLink>; Department of Paediatrics, Dr. Panjabrao Deshmukh Memorial Medical College, Amravati, India.<br /><searchLink fieldCode="AU" term="%22Kabra+M%22">Kabra M</searchLink>; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Jalan+A%22">Jalan A</searchLink>; NIRMAN, Vashi, India.<br /><searchLink fieldCode="AU" term="%22Solanki+D%22">Solanki D</searchLink>; Nirmal Mantra Children's Hospital, Bhavnagar, India.<br /><searchLink fieldCode="AU" term="%22Dalal+A%22">Dalal A</searchLink>; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Sheth+F%22">Sheth F</searchLink>; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Sheth+H%22">Sheth H</searchLink>; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India. harsh.sheth@frige.co.in.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2026 Jan 27; Vol. 21 (1), pp. 65. <i>Date of Electronic Publication: </i>2026 Jan 27.
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