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Diagnostic value of plasma lysosphingolipids levels in a Niemann-Pick disease type C patient with transient neonatal cholestasis.

Fatma Derya BulutNeslihan Ekşi BozbulutÖzge ÖzalpBuket DalgiçNeslihan Önenli MunganHabibe Koç UçarGürsel Biberoğlu
Published in: Journal of pediatric endocrinology & metabolism : JPEM (2022)
gene, lysosomal biomarkers play an important role when genetic analyses are inconclusive.
Keyphrases
  • genome wide
  • copy number
  • case report
  • cerebral ischemia
  • dna methylation
  • drug induced
  • genome wide identification
  • transcription factor