Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency-Reference-Cited by-同舟云学术

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Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

Published:2007-02 Issue:2 Volume:9 Page:108-116
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Oglesbee Devin,He Miao,Majumder Nilanjana,Vockley Jerry,Ahmad Ayesha,Angle Brad,Burton Barbara,Charrow Joel,Ensenauer Regina,Ficicioglu Can H.,Keppen Laura Davis,Marsden Deborah,Tortorelli Silvia,Hahn Si Houn,Matern Dietrich

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference25 articles.

Cited by 48 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. The Urinary Metabolome of Newborns with Perinatal Complications;Metabolites;2024-01-10

2. Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios;Biomedicines;2023-12-07

3. Acyl‐CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism;Journal of Inherited Metabolic Disease;2023-06-19

4. Acyl-CoA dehydrogenase substrate promiscuity limits the potential for development of substrate reduction therapy in disorders of valine and isoleucine metabolism;2022-11-22

5. Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis;JIMD Reports;2022-05-07

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