Author:
Baumgartner Matthias R,Hörster Friederike,Dionisi-Vici Carlo,Haliloglu Goknur,Karall Daniela,Chapman Kimberly A,Huemer Martina,Hochuli Michel,Assoun Murielle,Ballhausen Diana,Burlina Alberto,Fowler Brian,Grünert Sarah C,Grünewald Stephanie,Honzik Tomas,Merinero Begoña,Pérez-Cerdá Celia,Scholl-Bürgi Sabine,Skovby Flemming,Wijburg Frits,MacDonald Anita,Martinelli Diego,Sass Jörn Oliver,Valayannopoulos Vassili,Chakrapani Anupam
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Reference283 articles.
1. Fowler B, Leonard JV, Baumgartner MR: Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis. 2008, 31: 350-360.
2. Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B: Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med. 2008, 358: 1454-1464.
3. Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR: Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012, 44: 1152-1155.
4. Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C: Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet. 2006, 142C: 104-112.
5. Manoli I, Venditti C: Methylmalonic Acidemia. GeneReviews®. Edited by: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K. 2005, University of Washington, Seattle, [http://www.ncbi.nlm.nih.gov/books/NBK1231/], [ http://www.ncbi.nlm.nih.gov/books/NBK1231/ ]
Cited by
517 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