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Updated: Jan 25, 2026

Experience is Instrumental in Tuning a Link Between Language and Cognition: Evidence from 6- to 7- Month-Old Infants' Object Categorization
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Experience is Instrumental in Tuning a Link Between Language and Cognition: Evidence from 6- to 7- Month-Old Infants' Object Categorization

Published on: April 19, 2017

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[Paroxysmal crying and motor regression for more than two months in an infant]

Yong-Xin Wen1, Jia-Ping Wang, Yan Chen

  • 1Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. zwhang@pku.edu.cn.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|April 25, 2019
PubMed

Insights

Early diagnosis and treatment with biotin and thiamine can significantly improve outcomes for biotin-thiamine responsive basal ganglia disease (BTBGD). This treatable genetic disorder involves specific SLC19A3 gene mutations.

Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare, treatable autosomal recessive disorder.
  • It is characterized by neurological symptoms such as irritability, motor regression, and opisthotonus, often presenting in early childhood.
  • Genetic mutations in the SLC19A3 gene are implicated in the pathophysiology of BTBGD.

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