Brage Storstein Andresen

Papers authored by Brage Storstein Andresen

This paper is available in a repository.

2007 S. Gobin-Limballe, F. Djouadi, F. Aubey, S. Olpin, B. S. Andresen

, S. Yamaguchi, H. Mandel, T. Fukao, J. P. N. Ruiter, R. J. A. Wanders, R. McAndrew, J. J. Kim, J. Bastin

Genetic Basis for Correction of Very-Long-Chain Acyl–Coenzyme A Dehydrogenase Deficiency by Bezafibrate in Patient Fibroblasts: Toward a Genotype-Based Therapy

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This paper is made freely available by the publisher.

Xavier Roca, Andrew J. Olson, Atmakuri R. Rao, Espen Enerly, Vessela N. Kristensen, Anne-Lise Børresen-Dale, Brage S. Andresen

, Adrian R. Krainer, Ravi Sachidanandam

Features of 5′-splice-site efficiency derived from disease-causing mutations and comparative genomics

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Oivind J. Kanavin, Berit Woldseth, Egil Jellum, Bjorn Tvedt, Brage S. Andresen

, Petter Stromme

2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

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Karsten Bork Nielsen, Suzette Sørensen, Luca Cartegni, Thomas Juhl Corydon, Thomas Koed Doktor

, Lisbeth Dahl Schroeder, Line Sinnathamby Reinert

, Orly Elpeleg, Adrian R. Krainer, Niels Gregersen, Jørgen Kjems, Brage Storstein Andresen

Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer

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R. K. J. Olsen, S. E. Olpin, B. S. Andresen

, Z. H. Miedzybrodzka, M. Pourfarzam, B. Merinero, F. E. Frerman, Michael W. Beresford, J. C. S. Dean, N. Cornelius, O. Andersen, A. Oldfors, E. Holme, N. Gregersen, D. M. Turnbull and 1 other authors

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

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This paper was not found in any repository, but could be made available legally by the author.

2006 Christina B. Pedersen, Claus Bischoff, Ernst Christensen, Henrik Simonsen, Allan M. Lund

, Sarah P. Young, Dwight D. Koeberl, David S. Millington, Charles R. Roe, Diane S. Roe, Ronald J. A. Wanders, Jos P. N. Ruiter, Laura D. Keppen, Quinn Stein, Inga Knudsen and 2 other authors

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

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G. Maydan, B. S. Andresen

, P. P. Madsen, M. Zeigler, A. Raas-Rothschild, A. Zlotogorski, A. Gutman, S. H. Korman

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping

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A. Boneh, B. S. Andresen

, N. Gregersen, M. Ibrahim, N. Tzanakos, H. Peters, J. Yaplito Lee, J. J. Pitt

VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis

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Leigh Waddell, Veronica Wiley, Kevin Carpenter, Bruce Bennetts, Lyn Angel, Brage S. Andresen

, Bridget Wilcken

Medium-chain acyl-CoA dehydrogenase deficiency: Genotype–biochemical phenotype correlations

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2005 Maria Kibaek, Pia Pinholt Madsen, Xavier Roca, Ravi Sachidanandam, Adrian R. Krainer, Ernst Christensen, Robert D. Steiner, K. Michael Gibson, Thomas Juhl Corydon, Inga Knudsen, Ronald J. A. Wanders, Jos P. N. Ruiter, Niels Gregersen, Brage Storstein Andresen

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

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Linda P. O'Reilly, Brage S. Andresen

, Paul C. Engel

Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein

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Brage S. Andresen

, Avraham Zeharia, Stanley H. Korman, Alisa Gutman, James J. Pitt, Avihu Boneh

2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation

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Rikke K. J. Olsen, Brage S. Andresen

, Ernst Christensen, Hanna Mandel, Flemming Skovby, Jens Peter Nielsen, Inga Knudsen, Christine Vianey-Saban, Henrik Simonsen, Niels Gregersen

DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency

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2004 S. E. Olpin, S. Clark, B. S. Andresen

, C. Bischoff, R. K. J. Olsen, N. Gregersen, A. Chakrapani, M. Downing, N. J. Manning, M. Sharrard, J. R. Bonham, F. Muntoni, D. N. Turnbull, M. Pourfarzam

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

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Linda O'Reilly, Peter Bross, Thomas J. Corydon, Simon E. Olpin, Jakob Hansen, John M. Kenney, Shawn E. McCandless, Dianne M. Frazier, Vibeke Winter, Niels Gregersen, Paul C. Engel, Brage Storstein Andresen

, Brage Storstein Andresen

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive

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2003 Charlotte B. Sorensen, Brage S. Andresen

, Uffe B. Jensen, Thomas G. Jensen, Peter K. A. Jensen, Niels Gregersen, Lars Bolund

Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex

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Rikke K. J. Olsen, Brage S. Andresen

, Ernst Christensen, Peter Bross, Flemming Skovby, Niels Gregersen

Clear relationship betweenETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

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A. Curcoy, R. K. J. Olsen, A. Ribes, V. Trenchs, M. A. Vilaseca, J. Campistol, J. H. Osorio, B. S. Andresen

, N. Gregersen

Late-onset form of β-electron transfer flavoprotein deficiency

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Papers authored by Brage Storstein Andresen