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Brian Fowler

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David Coelho; Marcel du Moulin; Brian Fowler; Michele Frapolli; Stephen Fung; Wolfgang Höhne; Jaeseung C Kim; Nicola Longo; Jacek Majewski; Eugen Mengel; Isabelle R Miousse; Peter Nürnberg; Marzia Pasquali; Horst Robenek; David S Rosenblatt; Frank Rutsch; Eric A Shoubridge; Martin Stucki; Terttu Suormala; Holger Thiele; David Watkins; Insa Buers; Patricie Burda; Matthias R Baumgartner
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Sarah C Grünert; Jürgen Herwig; Stefan Kölker; Raphael J Morscher; Dorothea Möslinger; Elisabetta Pasquini; René Santer; K Otfried Schwab; Martin Stucki; Terttu Suormala; Bridget Wilcken; Wyatt W Yue; Patricie Burda; Celine Bürer; Ernst Christensen; Can Ficicioglu; Brian Fowler; Matthias R Baumgartner
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Frank Rutsch; Susann Gailus; Terttu Suormala; Brian Fowler
LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism.

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All Publications

2012: David Coelho; Marcel du Moulin; Brian Fowler; Michele Frapolli; Stephen Fung; Wolfgang Höhne; Jaeseung C Kim; Nicola Longo; Jacek Majewski; Eugen Mengel; Isabelle R Miousse; Peter Nürnberg; Marzia Pasquali; Horst Robenek; David S Rosenblatt; Frank Rutsch; Eric A Shoubridge; Martin Stucki; Terttu Suormala; Holger Thiele; David Watkins; Insa Buers; Patricie Burda; Matthias R Baumgartner
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Nature genetics 2012;44(10):1152-5.
2012: Sarah C Grünert; Jürgen Herwig; Stefan Kölker; Raphael J Morscher; Dorothea Möslinger; Elisabetta Pasquini; René Santer; K Otfried Schwab; Martin Stucki; Terttu Suormala; Bridget Wilcken; Wyatt W Yue; Patricie Burda; Celine Bürer; Ernst Christensen; Can Ficicioglu; Brian Fowler; Matthias R Baumgartner
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Orphanet journal of rare diseases 2012;7():31.
2011: Frank Rutsch; Susann Gailus; Terttu Suormala; Brian Fowler
LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism.
Journal of inherited metabolic disease 2011;34(1):121-6.
2010: Susann Gailus; Wolfgang Höhne; Bruno Gasnier; Peter Nürnberg; Brian Fowler; Frank Rutsch
Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease.
Journal of molecular medicine (Berlin, Germany) 2010;88(5):459-66.
2010: Susann Gailus; Terttu Suormala; Ayse Gül Malerczyk-Aktas; Mohammad R Toliat; Tanja Wittkampf; Martin Stucki; Peter Nürnberg; Brian Fowler; Julia B Hennermann; Frank Rutsch
A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.
Journal of inherited metabolic disease 2010;33(1):17-24.
2009: Jordan P 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
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Human mutation 2009;30(7):1072-81.
2009: André B P van Kuilenburg; Judith Meijer; Adri N P M Mul; Raoul Hennekam; Jan M N Hoovers; Christine E M de Die-Smulders; Peter Weber; Andrea Capone Mori; Jörgen Bierau; Brian Fowler; Klaus Macke; Jörn Oliver Sass; Rutger Meinsma; Julia B Hennermann; Peter Miny; Lida Zoetekouw; Raymon Vijzelaar; Joost Nicolai; Bauke Ylstra; M Estela Rubio-Gozalbo
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
Human genetics 2009;125(5-6):581-90.
2008: Brian Fowler; Alberto Burlina; Viktor Kozich; C Vianey-Saban
Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM.
Journal of inherited metabolic disease 2008;31(6):680-9.
2008: Brian Fowler; J V Leonard; M R Baumgartner
Causes of and diagnostic approach to methylmalonic acidurias.
Journal of inherited metabolic disease 2008;31(3):350-60.
2008: David Coelho; Terttu Suormala; Martin Stucki; Jordan P Lerner-Ellis; David S Rosenblatt; Robert F Newbold; Matthias R Baumgartner; Brian Fowler
Gene identification for the cblD defect of vitamin B12 metabolism.
The New England journal of medicine 2008;358(14):1454-64.
2005: Brian Fowler
Homocysteine: overview of biochemistry, molecular biology, and role in disease processes.
Seminars in vascular medicine 2005;5(2):77-86.
2005: Petra Zavadáková; Brian Fowler; Terttu Suormala; Zorka Novotna; Peter Mueller; Julia B Hennermann; Jirí Zeman; M Antonia Vilaseca; Laura Vilarinho; Sven Gutsche; Ekkehard Wilichowski; Gerd Horneff; Viktor Kozich
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
Human mutation 2005;25(3):239-47.
2004: Terttu Suormala; Matthias R Baumgartner; David Coelho; Petra Zavadakova; Viktor Kozich; Hans Georg Koch; Martin Berghaüser; James Wraith; Alberto Burlina; Adrian Sewell; Jürgen Herwig; Brian Fowler
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.
The Journal of biological chemistry 2004;279(41):42742-9.
2003: M A Vilaseca; Laura Vilarinho; Petra Zavadakova; E Vela; E Cleto; M Pineda; E Coimbra; Terttu Suormala; Brian Fowler; Viktor Kozich
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.
Journal of inherited metabolic disease 2003;26(4):361-9.
2002: Petra Zavadakova; Brian Fowler; Jirí Zeman; Terttu Suormala; K Pristoupilová; Viktor Kozich; P Zavad'áková
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.
Journal of inherited metabolic disease 2002;25(6):461-76.
2002: Piotr Litynski; FM Loehrer; L Linder; L Todesco; Brian Fowler
Effect of low doses of 5-methyltetrahydrofolate and folic acid on plasma homocysteine in healthy subjects with or without the 677C-->T polymorphism of methylenetetrahydrofolate reductase.
European journal of clinical investigation 2002;32(9):662-8.
2002: Terttu Suormala; Ulrich N Wiesmann; Fatima Cruz; Armin Wolf; Markus Daschner; Alain Limat; Brian Fowler; E Regula Baumgartner
Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletion.
International journal for vitamin and nutrition research. Internationale Zeitschrift für Vitamin- und Ernährungsforschung. Journal international de vitaminologie et de nutrition 2002;72(4):278-86.
2002: Detlev Boison; Louis Scheurer; Valérie Zumsteg; Thomas Rülicke; Piotr Litynski; Brian Fowler; Sebastian Brandner; Hanns Mohler
Neonatal hepatic steatosis by disruption of the adenosine kinase gene.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(10):6985-90.
2001: Brian Fowler
The folate cycle and disease in humans.
Kidney international. Supplement 2001;78():S221-9.
2001: FM Loehrer; M Tschöpl; CP Angst; Piotr Litynski; Kurt A Jäger; Brian Fowler; WE Haefeli
Disturbed ratio of erythrocyte and plasma S-adenosylmethionine/S-adenosylhomocysteine in peripheral arterial occlusive disease.
Atherosclerosis 2001;154(1):147-54.
1999: L Todesco; CP Angst; Piotr Litynski; FM Loehrer; Brian Fowler; WE Haefeli
Methylenetetrahydrofolate reductase polymorphism, plasma homocysteine and age.
European journal of clinical investigation 1999;29(12):1003-9.
1998: Terttu Suormala; Brian Fowler; Cornelis Jakobs; M Duran; Willy Lehnert; K Raab; H Wick; E Regula Baumgartner
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.
European journal of pediatrics 1998;157(7):570-5.
1998: Brian Fowler; Cornelis Jakobs
Post- and prenatal diagnostic methods for the homocystinurias.
European journal of pediatrics 1998;157 Suppl 2():S88-93.
1998: Brian Fowler
Genetic defects of folate and cobalamin metabolism.
European journal of pediatrics 1998;157 Suppl 2():S60-6.
1998: FM Loehrer; CP Angst; F P Brunner; WE Haefeli; Brian Fowler
Evidence for disturbed S-adenosylmethionine : S-adenosylhomocysteine ratio in patients with end-stage renal failure: a cause for disturbed methylation reactions?
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1998;13(3):656-61.
1997: FM Loehrer; R Schwab; CP Angst; WE Haefeli; Brian Fowler
Influence of oral S-adenosylmethionine on plasma 5-methyltetrahydrofolate, S-adenosylhomocysteine, homocysteine and methionine in healthy humans.
The Journal of pharmacology and experimental therapeutics 1997;282(2):845-50.
1997: Brian Fowler
Disorders of homocysteine metabolism.
Journal of inherited metabolic disease 1997;20(2):270-85.
1997: Terttu Suormala; Brian Fowler; M Duran; A Burtscher; A Fuchshuber; R Tratzmüller; M J Lenze; K Raab; Barbara Baur; H Wick; R Baumgartner
Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.
Pediatric research 1997;41(5):666-73.
1997: K Michael Gibson; E Christensen; Cornelis Jakobs; Brian Fowler; M A Clarke; G Hammersen; K Raab; J Kobori; A Moosa; B Vollmer; E Rossier; A K Iafolla; Dietrich Matern; O F Brouwer; JANICE FINKELSTEIN; F Aksu; H P Weber; J A Bakkeren; F J Gabreels; D Bluestone; T F Barron; P Beauvais; Daniel Rabier; C Santos; Willy Lehnert
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
Pediatrics 1997;99(4):567-74.
1996: FM Loehrer; WE Haefeli; CP Angst; G Browne; G Frick; Brian Fowler
Effect of methionine loading on 5-methyltetrahydrofolate, S-adenosylmethionine and S-adenosylhomocysteine in plasma of healthy humans.
Clinical science (London, England : 1979) 1996;91(1):79-86.
1996: FM Loehrer; CP Angst; WE Haefeli; P P Jordan; R Ritz; Brian Fowler
Low whole-blood S-adenosylmethionine and correlation between 5-methyltetrahydrofolate and homocysteine in coronary artery disease.
Arteriosclerosis, thrombosis, and vascular biology 1996;16(6):727-33.
1995: Terttu Suormala; Vincent T Ramaekers; S Schweitzer; Brian Fowler; M C Laub; C Schwermer; J Bachmann; E Regula Baumgartner
Biotinidase Km-variants: detection and detailed biochemical investigations.
Journal of inherited metabolic disease 1995;18(6):689-700.