Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples-Reference-Cited by-同舟云学术

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Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples

Published:2002-05 Issue:2 Volume:25 Page:98-106
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Kuhara T.¹¹,Ohse M.¹,Inoue Y.¹,Yorifuji T.²,Sakura N.³,Mitsubuchi H.⁴⁵,Endo F.⁵,Ishimatu J.⁴

Affiliation:

1. ; Division of Human Genetics, Medical Research Institute; Kanazawa Medical University; 1-1 Daigaku Uchinada, Kahoku-gun, Ishikawa 920-0293 Japan

2. ; Department of Pediatrics; Kyoto University Faculty of Medicine; Japan

3. ; Department of Pediatrics; Hiroshima University School of Medicine; Japan

4. ; Department of Pediatrics; Kumamoto City Hospital; Japan

5. ; Department of Pediatrics; Kumamoto University School of Medicine; Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1015620609075/fullpdf

Reference21 articles.

1. Isolation and identification of methylcitrate, a major metabolic product of propionate in a patient with propionic acidemia;Ando;J Biol Chem,1972

2. 3-Hydroxypropionate: significance of β-oxidation of propionate in patients with propionic acidemia and methylmalonic acidemia;Ando;Pro Natl Acad Sci USA,1972

3. Organic Acids in Man

4. Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency;Di Donato;Clin Chim Acta,1984

Cited by 25 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. NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias;Biomolecules;2024-04-28

2. Use of dried urine spots for screening of inborn errors of bile acid synthesis;Pediatrics International;2019-05

3. Systematic literature review and meta-analysis on the epidemiology of propionic acidemia;Orphanet Journal of Rare Diseases;2019-02-13

4. Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias;Clinica Chimica Acta;2018-12

5. Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine;Experimental and Therapeutic Medicine;2017-03-02

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