Výsledky vyhledávání - Wilcken, Bridget

Acid soaps in the fish odour syndrome Autor Wilcken, Bridget

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

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

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