A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B von Muschol, Nicole, Koehn, Anja, von Cossel, Katharina, Okur, Ilyas, Ezgu, Fatih, Harmatz, Paul, de Castro Lopez, Maria J, Couce, Maria Luz, Lin, Shuan-Pei, Batzios, Spyros, Cleary, Maureen, Solano, Martha, Nestrasil, Igor, Kaufman, Brian, Shaywitz, Adam J, Maricich, Stephen M, Kuca, Bernice, Kovalchin, Joseph, Zanelli, Eric

Volltext

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label... von Muntau, Ania C, Burlina, Alberto, Eyskens, François, Freisinger, Peter, Leuzzi, Vincenzo, Sivri, Hatice Serap, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelia S, Lane, Paul, Alvarez, Ignacio, Rutsch, Frank

Volltext

Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in... von Cleary, Maureen, Davison, James, Gould, Rachel, Geberhiwot, Tarekegn, Hughes, Derralynn, Mercer, Jean, Morrison, Alexandra, Murphy, Elaine, Santra, Saikat, Jarrett, James, Mukherjee, Swati, Stepien, Karolina M

Volltext

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-... von Levy, Harvey L, Dr, Milanowski, Andrzej, MD, Chakrapani, Anupam, MD, Cleary, Maureen, MD, Lee, Philip, MD, Trefz, Friedrich K, MD, Whitley, Chester B, MD, Feillet, François, MD, Feigenbaum, Annette S, FRCPC, Bebchuk, Judith D, ScD, Christ-Schmidt, Heidi, MSE, Dorenbaum, Alex, MD

Volltext

Clinical Genetics of Prolidase Deficiency: An Updated Review von Spodenkiewicz, Marta, Spodenkiewicz, Michel, Cleary, Maureen, Massier, Marie, Fitsialos, Giorgos, Cottin, Vincent, Jouret, Guillaume, Poirsier, Céline, Doco-Fenzy, Martine, Lèbre, Anne-Sophie

Volltext

Expanding the phenotype in argininosuccinic aciduria: need for new therapies von Baruteau, Julien, Jameson, Elisabeth, Morris, Andrew A., Chakrapani, Anupam, Santra, Saikat, Vijay, Suresh, Kocadag, Huriye, Beesley, Clare E., Grunewald, Stephanie, Murphy, Elaine, Cleary, Maureen, Mundy, Helen, Abulhoul, Lara, Broomfield, Alexander, Lachmann, Robin, Rahman, Yusof, Robinson, Peter H., MacPherson, Lesley, Foster, Katharine, Chong, W. Kling, Ridout, Deborah A., Bounford, Kirsten McKay, Waddington, Simon N., Mills, Philippa B., Gissen, Paul, Davison, James E.

Volltext

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome von Parini, Rossella, Broomfield, Alexander, Cleary, Maureen A., De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem M., Guffon, Nathalie, Lampe, Christina, Lund, Allan M., Scarpa, Maurizio, Tylki‐Szymańska, Anna, Zeman, Jiří

Volltext

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations von Shahni, Rojeen, Wedatilake, Yehani, Cleary, Maureen A., Lindley, Keith J., Sibson, Keith R., Rahman, Shamima

Volltext

Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy von Fassone, Elisa, Taanman, Jan-Willem, Hargreaves, Iain P, Sebire, Neil J, Cleary, Maureen A, Burch, Michael, Rahman, Shamima

Volltext

Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency von Keshavan, Nandaki, Wood, Michelle, Alderson, Lucy M., Cortina‐Borja, Mario, Skeath, Rachel, McSweeney, Mel, Dixon, Marjorie, Cleary, Maureen A., Footitt, Emma, Batzios, Spyros

Volltext

Earwax: A potentially useful medium to identify inborn errors of metabolism? von Krywawych, Stefan, Cleary, Maureen, McSweeney, Mel, Heales, Simon

Volltext

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III von Ghosh, Arunabha, Shapiro, Elsa, Rust, Stewart, Delaney, Kathleen, Parker, Samantha, Shaywitz, Adam J, Morte, Adelaida, Bubb, Gillian, Cleary, Maureen, Bo, Tien, Lavery, Christine, Bigger, Brian W, Jones, Simon A

Volltext

Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment von Baruteau, Julien, Khalil, Youssef, Grunewald, Stephanie, Zancolli, Marta, Chakrapani, Anupam, Cleary, Maureen, Davison, James, Footitt, Emma, Waddington, Simon N, Gissen, Paul, Mills, Philippa

Volltext

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6 von Reid, Emma S., Williams, Hywel, Stabej, Polona Le Quesne, James, Chela, Ocaka, Louise, Bacchelli, Chiara, Footitt, Emma J., Boyd, Stewart, Cleary, Maureen A., Mills, Philippa B., Clayton, Peter T.

Volltext

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report von Smedley, Damian, Smith, Katherine R, Martin, Antonio, Thomas, Ellen A, McDonagh, Ellen M, Cipriani, Valentina, Ellingford, Jamie M, Arno, Gavin, Tucci, Arianna, Vandrovcova, Jana, Chan, Georgia, Williams, Hywel J, Ratnaike, Thiloka, Wei, Wei, Stirrups, Kathleen, Ibanez, Kristina, Moutsianas, Loukas, Wielscher, Matthias, Need, Anna, Barnes, Michael R, Vestito, Letizia, Buchanan, James, Wordsworth, Sarah, Ashford, Sofie, Rehmström, Karola, Li, Emily, Fuller, Gavin, Twiss, Philip, Spasic-Boskovic, Olivera, Halsall, Sally, Floto, R Andres, Poole, Kenneth, Wagner, Annette, Mehta, Sarju G, Gurnell, Mark, Burrows, Nigel, James, Roger, Penkett, Christopher, Dewhurst, Eleanor, Gräf, Stefan, Mapeta, Rutendo, Kasanicki, Mary, Haworth, Andrea, Savage, Helen, Babcock, Melanie, Reese, Martin G, Bale, Mark, Baple, Emma, Boustred, Christopher, Brittain, Helen, de Burca, Anna, Bleda, Marta, Devereau, Andrew, Halai, Dina, Haraldsdottir, Eik, Hyder, Zerin, Kasperaviciute, Dalia, Patch, Christine, Polychronopoulos, Dimitris, Matchan, Angela, Sultana, Razvan, Ryten, Mina, Tavares, Ana L T, Tregidgo, Carolyn, Turnbull, Clare, Welland, Matthew, Wood, Suzanne, Snow, Catherine, Williams, Eleanor, Leigh, Sarah, Foulger, Rebecca E, Daugherty, Louise C, Niblock, Olivia, Leong, Ivone U S, Wright, Caroline F, Davies, Jim, Crichton, Charles, Welch, James, Woods, Kerrie, Abulhoul, Lara, Aurora, Paul, Bockenhauer, Detlef, Broomfield, Alexander, Cleary, Maureen A, Lam, Tanya, Dattani, Mehul, Footitt, Emma, Ganesan, Vijeya, Grunewald, Stephanie, Compeyrot-Lacassagne, Sandrine, Muntoni, Francesco, Pilkington, Clarissa, Quinlivan, Rosaline, Thapar, Nikhil, Wallis, Colin, Wedderburn, Lucy R, Worth, Austen, Bueser, Teofila, Compton, Cecilia, Deshpande, Charu

Volltext

Whole-genome sequencing of patients with rare diseases in a national health system von Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V. V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B. A., Saleem, Moin A., Smith, Kenneth G. C., Stark, Hannah, Tan, Rhea Y. Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Kingston, Nathalie, Walker, Neil, Bradley, John R., Ashford, Sofie, Penkett, Christopher J., Freson, Kathleen, Stirrups, Kathleen E., Raymond, F. Lucy, Ouwehand, Willem H.

Volltext

The changing role of the clinical nurse specialist for lysosomal diseases: Suggestions for support in the role von Antonini, Mathilda, McSweeney, Mel, Cleary, Maureen

Volltext

Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria von Aitkenhead, Lynne, Krishna, Gauri, Ellerton, Charlotte, Moinuddin, Md, Matcham, Jessica, Shiel, Lisha, Hossain, Shasoty, Kiffin, Marianne, Foley, Jennifer, Skeath, Rachel, Cleary, Maureen, Lachmann, Robin, Murphy, Elaine

Volltext

Correcting dynamic foot abnormalities improves gait and function in mucopolysaccharidosis type III patients von Wood, Michelle, Cleary, Maureen A., Eastwood, Deborah M.

Volltext

Phenylketonuria von Cleary, Maureen Anne, Skeath, Rachel

Volltext