Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia-Reference-Cited by-同舟云学术

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia

Published:2014 Issue: Volume: Page:39-46
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Imtiaz Faiqa,Al-Mubarak Bashayer M.,Al-Mostafa Abeer,Al-Hamed Mohamed,Allam Rabab,Al-Hassnan Zuhair,Al-Owain Mohammed,Al-Zaidan Hamad,Rahbeeni Zuhair,Qari Alya,Faqeih Eissa Ali,Alasmari Ali,Al-Mutairi Fuad,Alfadhel Majid,Eyaid Wafaa M.,Rashed Mohamed S.,Al-Sayed Moeenaldeen

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2014_297

Reference35 articles.

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2. Baumgarter ER, Viardot C (1995) Long-term follow-up of 77 patients with isolated methylmalonic acidaemia. J Inherit Metab Dis 18(2):138–142

3. Chace DH, DiPerna JC, Kalas TA, Johnson RW, Naylor EW (2001) Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clin Chem 47(11):2040–2044

4. Chandler RJ, Zerfas PM, Shanske S et al (2009) Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J 23(4):1252–1261

5. Coulombe JT, Shih VE, Levy HL (1981) Massachusetts metabolic disorders screening program. II. Methylmalonic aciduria. Pediatrics 67(1):26–31

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