Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males-Reference-Cited by-同舟云学术

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Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males

Published:2020-07-01 Issue:7 Volume:66 Page:988-989
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Alsharhan Hind¹²³,Alharbi Hana²,Priestley Jessica²,Ganetzky Rebecca¹²⁴,He Miao¹

Affiliation:

1. Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA

2. Division of Human Genetics, Section of Biochemical Genetics, Children’s Hospital of Philadelphia, PA

3. Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait

4. Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA

Publisher

Oxford University Press (OUP)

Subject

Biochemistry (medical),Clinical Biochemistry

Link

http://academic.oup.com/clinchem/article-pdf/66/7/988/33466974/hvaa101.pdf

Reference5 articles.

1. Seven new mutations in the human ornithine transcarbamylase gene;Tuchman;Hum Mutat,1994

2. Four newly identified ornithine transcarbamylase (OTC) mutation (D126G, R129H, I172M and W332X) in Japanese male patients with early onset OTC deficiency;Matsuura;Hum Mutat,1994

3. High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, triple H syndrome and OTC deficiency;Auray-Blais;Clin Chim Acta,2014

4. An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient;Burlina;J Inherit Metab Dis,2006

5. Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy;Mak;J Inherit Metab Dis,2007

Cited by 3 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. China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases;Orphanet Journal of Rare Diseases;2023-08-03

2. Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment;American Journal of Case Reports;2022-10-17

3. A Facile Method for the Quantification of Urinary Uracil Concentration by a Uracil-Specific Fluorescence Derivatization Reaction;Chemical and Pharmaceutical Bulletin;2021-08-01

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