Lysinuric protein intolerance with novel mutations in solute carrier family 7A member 7 in a Chinese family

Documenti analoghi

• Novel compound heterozygous variants in the TSPEAR gene causing autosomal recessive hearing loss in a Chinese family
  di: Xinyu Shi, et al.
  Pubblicazione: (2024)
• CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
  di: Jihang Luo, et al.
  Pubblicazione: (2025)
• Correction to “Nurses' perceptions about neonatal intensive care units providing family‐centered care are associated with skin‐to‐skin contact implementation”
  Pubblicazione: (2025)
• Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis
  di: Bin Zhang, et al.
  Pubblicazione: (2024)
• Effectiveness and safety of tocilizumab combined with different high‐dose methylprednisolone regimens for acute necrotizing encephalopathy in children
  di: Fei Li, et al.
  Pubblicazione: (2026)