检索结果 - Wilcken, Bridget

Acid soaps in the fish odour syndrome 由 Wilcken, Bridget

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

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

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