Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes
Author:
Funder
Horizon Therapeutics
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference24 articles.
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1. Neonatal Presentation of Ornithine Transcarbamylase Deficiency Associated With a Hypomorphic OTC Variant (p.Leu301Phe) Previously Reported in Later-Onset Disease;Cureus;2024-08-01
2. Carriers of autosomal recessive conditions: are they really ‘unaffected?’;Journal of Medical Genetics;2023-09-29
3. Anesthetic Management of the Surgical Correction of Idiopathic Scoliosis in a Teenager With Ornithine Transcarbamalyse Deficiency;Cureus;2023-09-17
4. Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency;Children;2023-08-09
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