Rezultati - Wilcken, Bridget

Acid soaps in the fish odour syndrome od Wilcken, Bridget

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

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

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Sialuria: Ninth Patient Described Has a Novel Mutation in GNE od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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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