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Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria.

Leen Jamel DoyaLava MohammadRazan OmranAlexander Ali IbrahimNizar YousefAli IbrahimMohammad Adib Houreih
Published in: BMC pediatrics (2021)
Early endoscopy is recommended in infants with persistent vomiting and failure to thrive due to high suspicion for a disorder of hypocholesterolemia. Early diagnosis and treatment are essential to avoid serious clinical complications, especially neurological impairment.
Keyphrases
  • rare case
  • amino acid
  • protein protein
  • chemotherapy induced