檢索結果 - Martin Stucki
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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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3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals 由 Sarah C. Grünert, Martin Stucki, Raphael J. Morscher, Terttu Suormala, Céline Bürer, Patricie Burda, Ernst Christensen, Can Fıçıcıoğlu, Jürgen Herwig, Stefan Kölker, Dorothea Möslinger, Elisabetta Pasquini, René Santer, Karl Otfried Schwab, Bridget Wilcken, Brian Fowler, Wyatt W. Yue, Matthias R. Baumgartner
出版 2012Artigo -
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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
相關主題
Biology
Gene
Genetics
Biochemistry
Mutation
Molecular biology
Mutant
Vitamin B12
Adenosylcobalamin
Allele
Amino acid
Cobalamin
Genotype
Homocystinuria
Methionine
Methylcobalamin
Methylmalonic aciduria
Phenotype
ATP-binding cassette transporter
Asymptomatic
Bacteria
CCPA
Catabolite repression
Clinical phenotype
Complementation
Endocrinology
Enzyme
Homocysteine
Inborn error of metabolism
Internal medicine