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The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease.
Venkatachari, Mahesh; Chakraborty, Soumalya; Correa, Alec Reginald Errol; Mishra, Puneeta; Kocchar, Kanwal Preet; Kabra, Madhulika; Chakrabarty, Biswaroop; Kalaivani, Mani; Sapra, Savita; Mishra, Pallavi; Gulati, Sheffali; Gupta, Neerja.
  • Venkatachari M; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Chakraborty S; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Correa ARE; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Mishra P; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Kocchar KP; Department of Physiology, All India Institute of Medical Sciences, New Delhi, India.
  • Kabra M; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Chakrabarty B; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Kalaivani M; Department of Biostatistics, All India Institute of Medical Sciences, New Delhi, India.
  • Sapra S; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Mishra P; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Gulati S; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Gupta N; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Am J Med Genet A ; 191(4): 1038-1043, 2023 04.
Article en En | MEDLINE | ID: mdl-36637080
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades por Almacenamiento Lisosomal / Enfermedad de Gaucher Tipo de estudio: Prognostic_studies / Screening_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades por Almacenamiento Lisosomal / Enfermedad de Gaucher Tipo de estudio: Prognostic_studies / Screening_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article