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
Database: MEDLINE Ultimate
Description
ISSN:1471-2431
DOI:10.1186/s12887-026-07232-4