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Article

Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations.

Journal of pediatric endocrinology & metabolism : JPEM - 24 May 2020

Saritaş Nakip Özlem, Yıldız Yılmaz, Tokatlı Ayşegül

Abstract excerpt

Objectives Urea cycle disorders (UCDs) are rare hereditary diseases. This study was conducted to help identify the characteristics of UCDs in Turkey. Methods The primary outcome was to determine patient characteristics. Investigating the relationships between the patient outcomes and ammonia levels were the secondary outcomes. Eighty five patients from 79 families, diagnosed with UCD at a single metabolic...

Topics

Child
Citrullinemia
Family
Female
Humans
Male
Mortality
Mutation
Retrospective Studies
Turkey
Urea Cycle Disorders, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32447331
DOI: 10.1515/jpem-2019-0413

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