Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients-Reference-Cited by-同舟云学术

Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients

Published:2020-11 Issue: Volume:510 Page:633-637
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Lee Tomoko,Yoshii Katsuhiko,Yoshida Satoru,Suga Takenori,Nakamura Kimitoshi,Sasai Hideo,Murayama Kei,Kobayashi Hironori,Hasegawa Yuki,Takeshima Yasuhiro

Funder

Japan Agency for Medical Research and Development

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference29 articles.

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5. Genotype-phenotype correlations in ornithine transcarbamylase deficiency: a mutation update;Caldovic;J. Genet. Genomics.,2015

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3. Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review;Frontiers in Genetics;2022-10-11