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Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.

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Title: Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.
Authors: Sheth J; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India. jayesh.sheth@frige.co.in., Nair A; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India., Bhavsar R; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India., Muranjan M; KEM Hospital, Mumbai, India., Nampoothiri S; Department of Pediatrics, Amrita School of Medicine, Kochi, India., Yesodharan D; Department of Pediatrics, Amrita School of Medicine, Kochi, India., Kaur A; PGIMER, Chandigarh, India., Shah RC; Ankur Institute of Child Health, Ahmedabad, India., Ranganath P; Department of Medical Genetics, NIMS, Hyderabad, India., Agrawal S; Department of Medical Genetics, NIMS, Hyderabad, India., Baluni A; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India., Saini N; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India., Dalal A; BRIC-Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Sheth F; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India., Sheth H; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India. harsh.sheth@frige.co.in.
Source: BMC pediatrics [BMC Pediatr] 2026 Jun 27. Date of Electronic Publication: 2026 Jun 27.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE
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  Data: Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.
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  Data: <searchLink fieldCode="AU" term="%22Sheth+J%22">Sheth J</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India. jayesh.sheth@frige.co.in.<br /><searchLink fieldCode="AU" term="%22Nair+A%22">Nair A</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Bhavsar+R%22">Bhavsar R</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Muranjan+M%22">Muranjan M</searchLink>; KEM Hospital, Mumbai, India.<br /><searchLink fieldCode="AU" term="%22Nampoothiri+S%22">Nampoothiri S</searchLink>; Department of Pediatrics, Amrita School of Medicine, Kochi, India.<br /><searchLink fieldCode="AU" term="%22Yesodharan+D%22">Yesodharan D</searchLink>; Department of Pediatrics, Amrita School of Medicine, Kochi, India.<br /><searchLink fieldCode="AU" term="%22Kaur+A%22">Kaur A</searchLink>; PGIMER, Chandigarh, India.<br /><searchLink fieldCode="AU" term="%22Shah+RC%22">Shah RC</searchLink>; Ankur Institute of Child Health, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Ranganath+P%22">Ranganath P</searchLink>; Department of Medical Genetics, NIMS, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Agrawal+S%22">Agrawal S</searchLink>; Department of Medical Genetics, NIMS, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Baluni+A%22">Baluni A</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Saini+N%22">Saini N</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Dalal+A%22">Dalal A</searchLink>; BRIC-Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Sheth+F%22">Sheth F</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Sheth+H%22">Sheth H</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India. harsh.sheth@frige.co.in.
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  Data: <searchLink fieldCode="JN" term="%22100967804%22">BMC pediatrics</searchLink> [BMC Pediatr] 2026 Jun 27. <i>Date of Electronic Publication: </i>2026 Jun 27.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100967804 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2431 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712431%22">14712431 </searchLink><i>NLM ISO Abbreviation: </i>BMC Pediatr <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s12887-026-07232-4
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              Text: 2026 Jun 27
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