Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening-Reference-Cited by-同舟云学术

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening

Published:2016-02 Issue:2 Volume:18 Page:162-167
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Wong Derek,Tortorelli Silvia,Bishop Lisa,Sellars Elizabeth A.,Schimmenti Lisa A.,Gallant Natalie,Prada Carlos E.,Hopkin Robert J.,Leslie Nancy D.,Berry Susan A.,Rosenblatt David S.,Fair Amy L.,Matern Dietrich,Raymond Kimiyo,Oglesbee Devin,Rinaldo Piero,Gavrilov Dimitar

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201545.pdf

Reference34 articles.

Cited by 22 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. Simultaneous determination of total homocysteine, methionine, methylmalonic acid and 2-methylcitric acid in dried blood spots by ultra-performance liquid chromatography–tandem mass spectrometry;Journal of Chromatography B;2024-08

2. Novel homozygous ADK out-of-frame deletion causes adenosine kinase deficiency with rare phenotypes of sepsis, metabolites disruption and neutrophil dysfunction;Gene;2024-07

3. Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report;Egyptian Journal of Medical Human Genetics;2024-01-03

4. Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects;JIMD Reports;2023-06-16

5. Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis;Cell Reports Medicine;2022-07