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

Güven, Serçin; Gökçe, İBRAHİM; Alavanda, Ceren; Öztürk Hişmi, BURCU; Çiçek, NESLİHAN; Bodur Demirci, Ece; Sak, Mehtap; Yıldız, NURDAN; Ata, PINAR; Alpay, Harika

doi:10.5152/turkarchpediatr.2022.21362

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

Atıf İçin Kopyala

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)

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.