Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

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Title: Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Authors: Sheth J; Department of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics Ahmedabad India., Nair A; Department of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics Ahmedabad India., Bhavsar R; Department of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics Ahmedabad India., Godbole K; Department of Clinical Genetics Deenanath Mangeshkar Hospital & Research Centre Pune India., Datar C; Department of Clincial Genetics Bharati Hospital and Research Centre Pune India., Nampoothiri S; Department of Paediatrics Amrita School of Medicine Kochi India., Panigrahi I; Department of Pediatrics Postgraduate Institute of Medical Education and Research, PGIMER Chandigarh India., Shah H; Department of Pediatrics Smt. NHL Municipal Medical College Ahmedabad India., Bajaj S; The Purple Gene Clinic Mumbai India., Tayade N; Department of Pediatrics Dr. Panjabrao Deshmukh Memorial Medical College Amravati India., Bhardwaj N; Department of Pediatrics AIIMS Hospital Bhatinda Punjab India., Sheth H; Department of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics Ahmedabad India.
Source: JIMD reports [JIMD Rep] 2024 Jan 02; Vol. 65 (2), pp. 85-101. Date of Electronic Publication: 2024 Jan 02 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
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  Data: <searchLink fieldCode="AU" term="%22Sheth+J%22">Sheth J</searchLink>; Department of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics Ahmedabad India.<br /><searchLink fieldCode="AU" term="%22Nair+A%22">Nair A</searchLink>; Department of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics Ahmedabad India.<br /><searchLink fieldCode="AU" term="%22Bhavsar+R%22">Bhavsar R</searchLink>; Department of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics Ahmedabad India.<br /><searchLink fieldCode="AU" term="%22Godbole+K%22">Godbole K</searchLink>; Department of Clinical Genetics Deenanath Mangeshkar Hospital & Research Centre Pune India.<br /><searchLink fieldCode="AU" term="%22Datar+C%22">Datar C</searchLink>; Department of Clincial Genetics Bharati Hospital and Research Centre 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="%22Panigrahi+I%22">Panigrahi I</searchLink>; Department of Pediatrics Postgraduate Institute of Medical Education and Research, PGIMER Chandigarh India.<br /><searchLink fieldCode="AU" term="%22Shah+H%22">Shah H</searchLink>; Department of Pediatrics Smt. NHL Municipal Medical College Ahmedabad India.<br /><searchLink fieldCode="AU" term="%22Bajaj+S%22">Bajaj S</searchLink>; The Purple Gene Clinic Mumbai India.<br /><searchLink fieldCode="AU" term="%22Tayade+N%22">Tayade N</searchLink>; Department of Pediatrics Dr. Panjabrao Deshmukh Memorial Medical College Amravati India.<br /><searchLink fieldCode="AU" term="%22Bhardwaj+N%22">Bhardwaj N</searchLink>; Department of Pediatrics AIIMS Hospital Bhatinda Punjab India.<br /><searchLink fieldCode="AU" term="%22Sheth+H%22">Sheth H</searchLink>; Department of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics Ahmedabad India.
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  Data: <searchLink fieldCode="JN" term="%22101568557%22">JIMD reports</searchLink> [JIMD Rep] 2024 Jan 02; Vol. 65 (2), pp. 85-101. <i>Date of Electronic Publication: </i>2024 Jan 02 (<i>Print Publication: </i>2024).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101568557 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2192-8304 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221928304%22">21928304 </searchLink><i>NLM ISO Abbreviation: </i>JIMD Rep <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1002/jmd2.12407
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        Text: English
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              Text: 2024 Jan 02
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