檢索結果 - David Coelho
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The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis 由 Terttu Suormala, Matthias R. Baumgartner, David Coelho, Petra Zavadáková, Viktor Kožich, Hans Georg Koch, Martin Berghaüser, J. E. Wraith, Alberto Burlina, A Sewell, Jürgen Herwig, Brian Fowler
出版 2004Artigo -
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Spectrum of mutations in<i>MMACHC</i>, allelic expression, and evidence for genotypeâphenotype correlations 由 Jordan Lerner‐Ellis, Natascia Anastasio, Junhui Liu, David Coelho, Terttu Suormala, Martin Stucki, Amanda D. Loewy, Scott Gurd, Elin Grundberg, Chantal F. Morel, David Watkins, Matthias R. Baumgartner, Tomi Pastinen, David S. Rosenblatt, Brian Fowler
出版 2009Artigo -
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Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism 由 David Coelho, Jaeseung Kim, Isabelle R. Miousse, Stephen Fung, Marcel du Moulin, Insa Buers, Terttu Suormala, Patricie Burda, Michele Frapolli, Martin Stucki, Peter Nürnberg, Hölger Thiele, Horst Robenek, Wolfgang Höhne, Nicola Longo, Marzia Pasquali, Eugen Mengel, David Watkins, Eric A. Shoubridge, Jacek Majewski, David S. Rosenblatt, Brian Fowler, Frank Rutsch, Matthias R. Baumgartner
出版 2012Artigo -
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A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients 由 Jean‐Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Trésarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David‐Alexandre Trégouët, Benjamin A. Raby, Wendy K. Chung, Pierre‐Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean‐François Benoist, Can Fıçıcıoğlu, Virginie Marchand, Yuri Motorin, C. Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt
出版 2017Artigo
相關主題
Biology
Genetics
Gene
Medicine
Mutation
Vitamin B12
Adenosylcobalamin
Allele
Biochemistry
Cobalamin
Methylcobalamin
Molecular biology
Amino acid
Endocrinology
Homocystinuria
Internal medicine
Methionine
Methylmalonic aciduria
Missense mutation
Mutant
ATP-binding cassette transporter
Abortion
Cell biology
Complementation
FOXO1
Gene duplication
Genotype
Homocysteine
Insulin
Insulin receptor