Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1

• المؤلفون الرئيسيون: Barbra Charina V. Cavan (مؤلف), Leniza G. de Castro-Hamoy (مؤلف), Conchita G. Abarquez (مؤلف), Ebner Bon G. Maceda (مؤلف), Maria Melanie Liberty B. Alcausin (مؤلف)
• التنسيق: كتاب
• منشور في: MDPI AG, 2024-08-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Hereditary tyrosinemia type I (HT1), or hepatorenal tyrosinemia, is an amino acid disorder which may cause hepatic failure as well as renal and neurologic comorbidities. Early detection of this disorder is possible with newborn screening (NBS). The objective of this study is to describe the clinical...