An atypical presentation in a child with propionic acidemia? Better think twice!

Documenti analoghi

• Asymptomatic pediatric presentation of S‐adenosylhomocysteine hydrolase deficiency
  di: Patrícia Lipari Pinto, et al.
  Pubblicazione: (2024)
• Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia‐induced acute pancreatitis
  di: Oliver Heath, et al.
  Pubblicazione: (2024)
• Enhanced differentiation between 3‐hydroxyglutaric and 2‐hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1
  di: Denis Cyr, et al.
  Pubblicazione: (2024)
• Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management
  di: A. Terrell, et al.
  Pubblicazione: (2025)
• 5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings
  di: Lelde Liepina, et al.
  Pubblicazione: (2024)