Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia


Güven S., Gökçe İ., Alavanda C., Öztürk Hişmi B., Çiçek N., Bodur Demirci E., ...Daha Fazla

TURKISH ARCHIVES OF PEDIATRICS, cilt.57, sa.4, ss.432-440, 2022 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 57 Sayı: 4
  • Basım Tarihi: 2022
  • Doi Numarası: 10.5152/turkarchpediatr.2022.21362
  • Dergi Adı: TURKISH ARCHIVES OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.432-440
  • Anahtar Kelimeler: Distal kidney tubular acidosis, genetics, children, hyperammonemia, SENSORINEURAL HEARING-LOSS, ATP6B1 GENE, MUTATIONS, ATP6V0A4, DEAFNESS, SUBUNIT, BAND-3
  • Marmara Üniversitesi Adresli: Evet

Özet

Objective: We aimed to present the characteristics, genetic analysis results, long-term prognosis of our patients with distal kidney tubular acidosis, and the relationship between hyperammonemia and distal kidney tubular acidosis.