Browsing by Subject "failure to thrive"

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ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.

Subaşıoğlu Uzak, Aslı; Çakar, Nilgün; Çomak, Elif; Yalçınkaya, Fatoş; Tekin, Mustafa (Taylor & Francis, 2013-10-01)

Distal renal tubular acidosis (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic metabolic acidosis, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis and nephrolithiasis. ...