Søgeresultater - Wilcken, Bridget

Acid soaps in the fish odour syndrome af Wilcken, Bridget

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Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come? af Wilcken, Bridget

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Homocystinuria: Reduced folate levels during pyridoxine treatment af Wilcken, Bridget, Turner, Brian

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Sialuria: Ninth Patient Described Has a Novel Mutation in GNE af Martinez, Noelia Nunez, Lipke, Michelle, Robinson, Jacqueline, Wilcken, Bridget

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Progressing our understanding of the impacts of nutrition on the brain and behaviour in anorexia nervosa: a tyrosine case study example af Hart, Melissa, Sibbritt, David, Williams, Lauren T., Nunn, Kenneth P., Wilcken, Bridget

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Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias af Alodaib, Ahmad N., Carpenter, Kevin, Wiley, Veronica, Wotton, Tiffany, Christodoulou, John, Wilcken, Bridget

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AAV2/8-mediated Correction of OTC Deficiency Is Robust in Adult but Not Neonatal Spf(ash) Mice af Cunningham, Sharon C, Spinoulas, Afroditi, Carpenter, Kevin H, Wilcken, Bridget, Kuchel, Philip W, Alexander, Ian E

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The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH(4)) Responsiveness af Ho, Gladys, Alexander, Ian, Bhattacharya, Kaustuv, Dennison, Barbara, Ellaway, Carolyn, Thompson, Sue, Wilcken, Bridget, Christodoulou, John

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Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series af Selvanathan, Arthavan, Kinsella, Jane, Moore, Francesca, Wynn, Robert, Jones, Simon, Shaw, Peter J., Wilcken, Bridget, Bhattacharya, Kaustuv

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Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency af Sudarsanam, Annapurna, Singh, Harry, Wilcken, Bridget, Stormon, Michael, Arbuckle, Susan, Schmitt, Bernhard, Clayton, Peter, Earl, John, Webster, Richard

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Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study af Wotton, Tiffany, Wiley, Veronica, Bennetts, Bruce, Christie, Louise, Wilcken, Bridget, Jenkins, Gemma, Rogers, Carolyn, Boyle, Jackie, Field, Michael

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Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening af Cipolli, Marco, Castellani, Carlo, Wilcken, Bridget, Massie, John, McKay, Karen, Gruca, Margie, Tamanini, Anna, Assael, Maurice Baroukh, Gaskin, Kevin

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The natural history of homocystinuria due to cystathionine β-synthase deficiency af Mudd, S. Harvey, Skovby, Flemming, Levy, Harvey L., Pettigrew, Karen D., Wilcken, Bridget, Pyeritz, Reed E., Andria, G., Boers, Godfried H. J., Bromberg, Irvin L., Cerone, Roberto, Fowler, Brian, Gröbe, H., Schmidt, Hildgund, Schweitzer, Leslie

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3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals af Grünert, Sarah C, Stucki, Martin, Morscher, Raphael J, Suormala, Terttu, Bürer, Celine, Burda, Patricie, Christensen, Ernst, Ficicioglu, Can, Herwig, Jürgen, Kölker, Stefan, Möslinger, Dorothea, Pasquini, Elisabetta, Santer, René, Schwab, K Otfried, Wilcken, Bridget, Fowler, Brian, Yue, Wyatt W, Baumgartner, Matthias R

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Newborn Screening for Vitamin B(6) Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy af Okun, Jürgen G., Gan-Schreier, Hongying, Ben-Omran, Tawfeq, Schmidt, Kathrin V., Fang-Hoffmann, Junmin, Gramer, Gwendolyn, Abdoh, Ghassan, Shahbeck, Noora, Al Rifai, Hilal, Al Khal, Abdul Latif, Haege, Gisela, Chiang, Chuan-Chi, Kasper, David C., Wilcken, Bridget, Burgard, Peter, Hoffmann, Georg F.

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Diagnosis and management of glutaric aciduria type I – revised recommendations af Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., Burgard, Peter

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A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome af Lim, Sze Chern, Smith, Katherine R., Stroud, David A., Compton, Alison G., Tucker, Elena J., Dasvarma, Ayan, Gandolfo, Luke C., Marum, Justine E., McKenzie, Matthew, Peters, Heidi L., Mowat, David, Procopis, Peter G., Wilcken, Bridget, Christodoulou, John, Brown, Garry K., Ryan, Michael T., Bahlo, Melanie, Thorburn, David R.

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Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion af Vyletal, Petr, Sokolová, Jitka, Cooper, David N., Kraus, Jan P., Krawczak, Michael, Pepe, Guglielmina, Rickards, Olga, Koch, Hans G., Linnebank, Michael, Kluijtmans, Leo A. J., Blom, Henk J., Boers, Godfried H. J., Gaustadnes, Mette, Skovby, Flemming, Wilcken, Bridget, Wilcken, David E. L., Andria, Generoso, Sebastio, Gianfranco, Naughten, Eileen R., Yap, Sufin, Ohura, Toshihiro, Pronicka, Ewa, Laszlo, Aranka, Kožich, Viktor

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