نتائج البحث - Brian Fowler
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Homocystinuria حسب Brian Fowler, Jan P. Kraus, Seymour Packman, León E. Rosenberg
منشور في 1978Artigo -
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Evidence for disturbed S-adenosylmethionine: S-adenosylhomocysteine ratio in patients with end-stage renal failure: a cause for disturbed methylation reactions? حسب F. Loehrer, Christof Angst, Felix Brunner, Walter E. Haefeli, Brian Fowler
منشور في 1998Artigo -
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Molecular Genetic Characterization of 151<i>Mut</i>-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in<i>MUT</i> حسب Patrick Forny, Anne-Sophie Schnellmann, Celine Buerer, Seraina Lutz, Brian Fowler, D. Sean Froese, Matthias R. Baumgartner
منشور في 2016Artigo -
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Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy حسب Martina Huemer, Sabine Scholl‐Bürgi, Karine Hadaya, Ilse Kern, Ronny Beer, Klaus Seppi, Brian Fowler, Matthias R. Baumgartner, Daniela Karall
منشور في 2014Revisão -
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Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB) حسب Friederike Hörster, Matthias R. Baumgartner, Caroline Viardot, Terttu Suormala, Peter Burgard, Brian Fowler, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker, E. R. Baumgartner
منشور في 2007Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Medicine
Gene
Internal medicine
Biochemistry
Genetics
Vitamin B12
Homocysteine
Mutation
Amino acid
Disease
Endocrinology
Methionine
Chemistry
Cobalamin
Enzyme
Pediatrics
Homocystinuria
Methylmalonic acid
Methylmalonic aciduria
Gastroenterology
Cell biology
Genotype
Molecular biology
Allele
Cystathionine beta synthase
Gene expression
Hyperhomocysteinemia
Methylenetetrahydrofolate reductase
Missense mutation