The role of orotic acid measurement in routine newborn screening for urea cycle disorders-Reference-Cited by-同舟云学术

The role of orotic acid measurement in routine newborn screening for urea cycle disorders

Published:2020-11-30 Issue:3 Volume:44 Page:606-617
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Staretz‐Chacham Orna¹^ORCID,Daas Suha²,Ulanovsky Igor²,Blau Ayala²³,Rostami Nira²,Saraf‐Levy Talya²,Abu Salah Nasser⁴⁵,Anikster Yair⁶⁷,Banne Ehud⁸,Dar Dalit⁹,Dumin Elena⁹¹⁰,Fattal‐Valevski Aviva⁷¹¹,Falik‐Zaccai Tzipora¹²¹³,Hershkovitz Eli¹⁴¹⁵,Josefsberg Sagi⁸,Khammash Hatem¹⁶,Keidar Rimona¹⁷,Korman Stanley H.¹⁸¹⁹,Landau Yuval²⁰,Lerman‐Sagie Tally⁷²¹,Mandel Dror⁷,Mandel Hanna¹⁰¹⁹,Marom Ronella²²,Morag Iris¹⁷,Nadir Erez¹⁰²³,Yosha‐Orpaz Naama²¹,Pode‐Shakked Ben⁶⁷,Pras Elon²⁴²⁵,Reznik‐Wolf Haike²⁴,Saada Ann²⁵²⁶,Segel Reeval²⁶²⁷,Shaag Avraham²⁵,Shaul Lotan Nava²⁵,Spiegel Ronen¹⁰²⁸,Tal Galit¹⁹,Vaisid Taly²⁹,Zeharia Avi²⁰,Almashanu Shlomo²

Affiliation:

1. Metabolic Clinic, Pediatric Division Soroka University Medical Center, Ben Gurion University Beer Sheva Israel

2. National Newborn Screening Program Ministry of Health Tel‐HaShomer, Ramat Gan Israel

3. Nursing Department School of Health Sciences, Ariel University Ariel Israel

4. Department of Neonatology Red Crescent Society Hospital Jerusalem Israel

5. Department of Neonatology Shaare Zedek Medical Center Jerusalem Israel

6. Edmond and Lily Safra Children's Hospital, Sheba Medical Center Tel‐Hashomer Israel

7. Sackler School of Medicine, Tel Aviv University Tel‐Aviv Israel

8. Genetics Institute, Kaplan Medical Center Rehovot Israel

9. Department of Clinical Biochemistry Rambam Health Care Campus Haifa Israel

10. Ruth & Bruce Rappaport Faculty of Medicine Technion‐Israel Institute of Technology Haifa Israel

11. Pediatric Neurology Unit Dana Children Hospital, Tel Aviv Sourasky Medical Center Tel Aviv Israel

12. Institute of Human Genetics, The Galilee Medical Center Naharia Israel

13. The Azrieli Faculty of Medicine Bar Ilan Israel

14. Pediatric D Department Soroka Medical Center Beer Sheva Israel

15. Faculty of Health Sciences Ben‐Gurion University Beer Sheva Israel

16. Department of Neonatology Makassed Islamic Hospital Jerusalem Israel

17. Pediatric Department Shamir Medical Center (Assaf Harofeh), Zerifin, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University Tel Aviv Israel

18. Wilf Children's Hospital, Shaare Zedek Medical Center Jerusalem Israel

19. Metabolic Unit Ruth Rappaport Children's Hospital, Rambam Health Care Campus Haifa Israel

20. Metabolic Disease Unit Schneider Children's Medical Center of Israel, Tel Aviv University Israel

21. Pediatric Neurology Unit Metabolic Neurogenetic Service, Wolfson Medical Center Holon Israel

22. Department of Neonatology Dana Dwek Children's Hospital, Tel Aviv Medical Center, Affiliated to Sackler School of Medicine, Tel‐Aviv University Tel‐Aviv Israel

23. Department of Neonatology Hillel Yaffe Medical Center Hadera Israel

24. The Danek Gertner Institute of Human Genetics, Sheba Medical Center Ramat Gan Israel

25. Department of Genetics Hadassah‐Hebrew University Medical Center Jerusalem Israel

26. Hebrew University School of Medicine Jerusalem Israel

27. Medical Genetics Institute, Shaare Zedek Medical Center Jerusalem Israel

28. Department of Pediatrics B Metabolic Service, Emek Medical Center Afula Israel

29. Metabolic Laboratory Sheba Medical Center Tel‐HaShomer, Ramat Gan Israel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12331

Reference37 articles.

2. Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

3. The incidence of urea cycle disorders

4. Disorders of urea cycle and related enzymes;Häberle J;Inborn Metabol Dis,2016

5. Aminoacidopathies: prevalence, etiology, screening, and treatment options;Wasim M;Biochem Genet,2017

Cited by 7 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. Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening;Journal of Zhejiang University (Medical Sciences);2023-12-01

2. Perspectives of Rare Disease Experts on Newborn Genome Sequencing;JAMA Network Open;2023-05-08

3. Hereditary orotic aciduria identified by newborn screening;Frontiers in Genetics;2023-03-14

4. The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem;JIMD Reports;2023-01-29

5. Metabolomics used in clinical diagnosis related to newborn screening;Metabolomics;2023