Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review-Reference-Cited by-同舟云学术

Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review

Published:2019-08-22 Issue:10 Volume:179 Page:2091-2100
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Torkzaban Mehnoosh¹^ORCID,Haddad Andrew²³,Baxter Jason K.¹,Berghella Vincenzo¹,Gahl William A.⁴,Al‐Kouatly Huda B.¹

Affiliation:

1. Division of Maternal‐Fetal Medicine, Department of Obstetrics and GynecologySidney Kimmel Medical College of Thomas Jefferson University Philadelphia Pennsylvania

2. Department of Obstetrics & GynecologyMedstar Washington Hospital Center Washington District of Columbia

3. Medical Genetics BranchNational Human Genome Research Institute, National Institute of Health Bethesda Maryland

4. Section on Human Biochemical Genetics, Medical Genetics BranchNational Human Genome Research Institute, National Institute of Health Bethesda Maryland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61329

Reference48 articles.

1. A rare cause of postpartum coma: isolated hyperammonemia due to urea cycle disorder

2. Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature

3. Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus

4. Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency

5. Psychiatric adult-onset of urea cycle disorders: A case-series

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Inborn errors of metabolism and pregnancy;American Journal of Obstetrics & Gynecology MFM;2024-08

2. mRNA therapies: Pioneering a new era in rare genetic disease treatment;Journal of Controlled Release;2024-05

3. Wireless Detection of Trace Ammonia: A Chronic Kidney Disease Biomarker;ACS Nano;2023-12-26

4. The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey;Journal of Inherited Metabolic Disease;2023-12-09

5. Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China;2023-11-24