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Juvenile Parkinsonism and Cognitive Impairment in a Patient with Compound Heterozygous Variants in the BTD Gene- an Unusual Presentation of Biotinidase Deficiency.

Baikuntha PanigrahiDivya Madathiparambil RadhakrishnanAyush AgarwalRoopa RajanDivyani GargAnimesh DasAwadh Kishor PanditAchal Kumar Srivastava
Published in: Movement disorders clinical practice (2024)
Keyphrases
  • cognitive impairment
  • copy number
  • case report
  • early onset
  • genome wide
  • parkinson disease
  • drug induced
  • genome wide identification
  • dna methylation
  • replacement therapy