Isobutyryl-CoA dehydrogenase deficiency: Isobutyrylglycinuria and ACAD8 gene mutations in two infants-Reference-Cited by-同舟云学术

Isobutyryl-CoA dehydrogenase deficiency: Isobutyrylglycinuria and ACAD8 gene mutations in two infants

Published:2004-11 Issue:6 Volume:27 Page:741-745
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Sass J. O.¹,Sander S.²,Zschocke J.³

Affiliation:

1. ; Stoffwechsellabor, Zentrum für Kinderheilkunde und Jugendmedizin; Universitätsklinikum Freiburg; Freiburg Germany

2. Screening-Labor; Hannover USA

3. ; Institut für Humangenetik; Ruprecht-Karls Universität; Heidelberg Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000045798.12425.1b/fullpdf

Reference8 articles.

1. Structures of isobut ryl-CoA dehydrogenase and enz me-product complex:comparison with isovaleryl-and short chain acyl-CoA dehydrogenases;Battaile;J Biol Chem,2004

2. Rapid diagnosis of MCAD deficiency:quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry;Chace;Clin Chem,1997

3. Richtlinien zur Organisation und Durchführung des Neugeborenenscreenings auf angeborene Stoffwechselstörungen und Endokrinopathien in Deutschland;Interdisziplinäre Screeningkommission der Deutschen Gesellschaft für Kinderheilkunde und Jugendmedizin;Monatsschr Kinderheilkd,2002

4. Rare disorders of metabolism with elevated butyryl-and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening;Koeberl;Pediatr Res,2003

5. Long-term results of selective screening for inborn errors of metabolism;Lehnert;Eur J Pediatr,1994

Cited by 28 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. Transcriptomics and proteomic-based study of the acaricidal mechanism of paeonol against Aleuroglyphus ovatus;International Journal of Acarology;2023-10-23

2. 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

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

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

5. Disorders of Branched-Chain Amino Acid Metabolism;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022