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Long-term outcomes of MPS IVA patients treated with elosulfase alfa: Findings from the Morquio A Registry Study (MARS) after 10 years Mitchell, John J.; Burton, Barbara K.; Campeau, Philippe M.; Ellaway, Carolyn; Guffon, Nathalie; Hughes, Derralynn; Hunt, Abigail; Lail, Alice; Lin, Hsiang-Yu; Lin, Shuan-Pei; Magner, Martin; Reddy, Sheila; Reisewitz, Pascal; Stepien, Karolina M. 分享 收藏
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study Guffon, Nathalie; Burton, Barbara K.; Ficicioglu, Can; Magner, Martin; Gil-Campos, Mercedes; Lopez-Rodriguez, Monica A.; Jayakar, Parul; Lund, Allan M.; Tal, Galit; Garcia-Ortiz, Jose Elias; Stepien, Karolina M.; Ellaway, Carolyn; Al-Hertani, Walla; Giugliani, Roberto; Cathey, Sara S.; Hennermann, Julia B.; Lampe, Christina; McNutt, Markey; Lagler, Florian B.; Scarpa, Maurizio; Sutton, V. Reid; Muschol, Nicole 分享 收藏
A Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis Muschol, Nicole M.; Burton, Barbara K.; Ficicioglu, Can; Magner, Martin; Gil-Campos, Mercedes; Lopez-Rodriguez, Monica; Jayakar, Parul; Lund, Allan; Tal, Galit; Garcia, Jose E.; Stepien, Karolina M.; Ellaway, Carolyn; Al-Hertani, Walla; Giugliani, Roberto; Cathey, Sara; Hennermann, Julia B.; Lampe, Christina; McNutt, Markey; Lagler, Florian; Scarpa, Maurizio; Sutton, V. Reid; Guffon, Nathalie 分享 收藏
Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers Djafar, Jason V.; Smith, Nicholas J.; Johnson, Alexandra M.; Bhattacharya, Kaustuv; Ardern-Holmes, Simone L.; Ellaway, Carolyn; Dale, Russell C.; D'Silva, Arlene M.; Kariyawasam, Didu S.; Grattan, Sarah; Kandula, Tejaswi; Lewis, Katherine; Mohammed, Shekeeb S.; Farrar, Michelle A. 分享 收藏
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Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa 6年后Morquio A注册研究 (MARS) 的结果: 接受elosulfase alfa治疗的MPS IVA患者的长期结果 Mitchell, John J.; Burton, Barbara K.; Bober, Michael B.; Campeau, Philippe M.; Cohen, Shelda; Dosenovic, Sara; Ellaway, Carolyn; Bhattacharya, Kaustuv; Guffon, Nathalie; Hinds, David; Lail, Alice; Lin, Shuan-Pei; Magner, Martin; Raiman, Julian; Schwartz-Sagi, Liat; Stepien, Karolina M. 分享 收藏
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain Righetti, Sarah; Allcock, Richard J. N.; Yaplito-Lee, Joy; Adams, Louisa; Ellaway, Carolyn; Jones, Kristi J.; Selvanathan, Arthavan; Fletcher, Janice; Pitt, James; van Kuilenburg, Andre B. P.; Delatycki, Martin B.; Laing, Nigel G.; Kirk, Edwin P. 分享 收藏
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis Ewans, Lisa J.; Minoche, Andre E.; Schofield, Deborah; Shrestha, Rupendra; Puttick, Clare; Zhu, Ying; Drew, Alexander; Gayevskiy, Velimir; Elakis, George; Walsh, Corrina; Ades, Lesley C.; Colley, Alison; Ellaway, Carolyn; Evans, Carey-Anne; Freckmann, Mary-Louise; Goodwin, Linda; Hackett, Anna; Kamien, Benjamin; Kirk, Edwin P.; Lipke, Michelle; Mowat, David; Palmer, Elizabeth; Rajagopalan, Sulekha; Ronan, Anne; Sachdev, Rani; Stevenson, William; Turner, Anne; Wilson, Meredith; Worgan, Lisa; Morel-Kopp, Marie-Christine; Field, Michael; Buckley, Michael F.; Cowley, Mark J.; Dinger, Marcel E.; Roscioli, Tony 分享 收藏
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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families (vol 23, pg 2415, 2021) Guimier, Anne; Achleitner, Melanie T.; de Bellaing, Anne Moreau; Edwards, Matthew; de Pontual, Loic; Mittal, Kirti; Dunn, Kyla E.; Grove, Megan E.; Tysoe, Carolyn J.; Dimartino, Clemantino; Cameron, Jessie; Kanthi, Anil; Shukla, Anju; van den Broek, Florence; Chatterjee, Diptendu; Alston, Charlotte L.; V. Knowles, Charlotte; Brett, Laura; Till, Jan A.; Homfray, Tessa; French, Paul; Spentzou, Georgia; Elserafy, Noha A.; Lichkus, Kate S.; Sankaran, Bindu P.; Kennedy, Hannah L.; George, Peter M.; Kidd, Alexa; Wortmann, Saskia B.; Fisk, Dianna G.; Koopmann, Tamara T.; Rafiq, Muhammad A.; Merker, Jason D.; Parikh, Sumith; Ahimaz, Priyanka; Weintraub, Robert G.; Ma, Alan S.; Turner, Christian; Ellaway, Carolyn J.; Phillips, Liza K.; Thorburn, David R.; Chung, Wendy K.; Kana, Sajel L.; Faye-Petersen, Ona M.; Thompson, Michelle L.; Janin, Alexandre; McLeod, Karen; McGowan, Ruth; McFarland, Robert; Girisha, Katta M.; Morris-Rosendahl, Deborah J.; Hurst, Anna C. E.; Turner, Claire L. S.; Hamilton, Robert M.; Taylor, Robert W.; Bajolle, Fanny; Gordon, Christopher T.; Amiel, Jeanne; Mayr, Johannes A.; Doudney, Kit 分享 收藏
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children 作为儿童线粒体疾病的诊断生物标志物，FGF21优于GDF15 Riley, Lisa G.; Nafisinia, Michael; Menezes, Minal J.; Nambiar, Reta; Williams, Andrew; Barnes, Elizabeth H.; Selvanathan, Arthavan; Lichkus, Kate; Bratkovic, Drago; Yaplito-Lee, Joy; Bhattacharya, Kaustuv; Ellaway, Carolyn; Kava, Maina; Balasubramaniam, Shanti; Christodoulou, John 分享 收藏
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families Guimier, Anne; Achleitner, Melanie T.; de Bellaing, Anne Moreau; Edwards, Matthew; de Pontual, Loic; Mittal, Kirti; Dunn, Kyla E.; Grove, Megan E.; Tysoe, Carolyn J.; Dimartino, Clemantine; Cameron, Jessie; Kanthi, Anil; Shukla, Anju; van den Broek, Florence; Chatterjee, Diptendu; Alston, Charlotte L.; Knowles, Charlotte V.; Brett, Laura; Till, Jan A.; Homfray, Tessa; French, Paul; Spentzou, Georgia; Elserafy, Noha A.; Lichkus, Kate S.; Sankaran, Bindu P.; Kennedy, Hannah L.; George, Peter M.; Kidd, Alexa; Wortmann, Saskia B.; Fisk, Dianna G.; Koopmann, Tamara T.; Rafiq, Muhammad A.; Merker, Jason D.; Parikh, Sumith; Ahimaz, Priyanka; Weintraub, Robert G.; Ma, Alan S.; Turner, Christian; Ellaway, Carolyn J.; Phillips, Liza K.; Thorburn, David R.; Chung, Wendy K.; Kana, Sajel L.; Faye-Petersen, Ona M.; Thompson, Michelle L.; Janin, Alexandre; McLeod, Karen; McGowan, Ruth; McFarland, Robert; Girisha, Katta M.; Morris-Rosendahl, Deborah J.; Hurst, Anna C. E.; Turner, Claire L. S.; Hamilton, Robert M.; Taylor, Robert W.; Bajolle, Fanny; Gordon, Christopher T.; Amiel, Jeanne; Mayr, Johannes A.; Doudney, Kit 分享 收藏
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency Wortmann, Saskia B.; Zietkiewicz, Szymon; Guerrero-Castillo, Sergio; Feichtinger, Rene G.; Wagner, Matias; Russell, Jacqui; Ellaway, Carolyn; Mroz, Dagmara; Wyszkowski, Hubert; Weis, Denisa; Hannibal, Iris; von Stuelpnagel, Celina; Cabrera-Orefice, Alfredo; Lichter-Konecki, Uta; Gaesser, Jenna; Windreich, Randy; Myers, Kasiani C.; Lorsbach, Robert; Dale, Russell C.; Gersting, Soren; Prada, Carlos E.; Christodoulou, John; Wolf, Nicole I.; Venselaar, Hanka; Mayr, Johannes A.; Wevers, Ron A. 分享 收藏
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency (Jun, 10.1038/s41436-021-01194-x, 2021) Wortmann, Saskia B.; Zietkiewicz, Szymon; Guerrero-Castillo, Sergio; Feichtinger, Rene G.; Wagner, Matias; Russell, Jacqui; Ellaway, Carolyn; Mroz, Dagmara; Wyszkowski, Hubert; Weis, Denisa; Hannibal, Iris; von Stulpnagel, Celina; Cabrera-Orefice, Alfredo; Lichter-Konecki, Uta; Gaesser, Jenna; Windreich, Randy; Myers, Kasiani C.; Lorsbach, Robert; Dale, Russell C.; Gersting, Soren; Prada, Carlos E.; Christodoulou, John; Wolf, Nicole I.; Venselaar, Hanka; Mayr, Johannes A.; Wevers, Ron A. 分享 收藏
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus ATAD3位点反复重复引起的致命性围产期线粒体心力衰竭 Frazier, Ann E.; Compton, Alison G.; Kishita, Yoshihito; Hock, Daniella H.; Welch, AnneMarie E.; Amarasekera, Sumudu S. C.; Rius, Rocio; Formosa, Luke E.; Imai-Okazaki, Atsuko; Francis, David; Wang, Min; Lake, Nicole J.; Tregoning, Simone; Jabbari, Jafar S.; Lucattini, Alexis; Nitta, Kazuhiro R.; Ohtake, Akira; Murayama, Kei; Amor, David J.; McGillivray, George; Wong, Flora Y.; van der Knaap, Marjo S.; Vermeulen, R. Jeroen; Wiltshire, Esko J.; Fletcher, Janice M.; Lewis, Barry; Baynam, Gareth; Ellaway, Carolyn; Balasubramaniam, Shanti; Bhattacharya, Kaustuv; Freckmann, Mary-Louise; Arbuckle, Susan; Rodriguez, Michael; Taft, Ryan J.; Sadedin, Simon; Cowley, Mark J.; Minoche, Andre E.; Calvo, Sarah E.; Mootha, Vamsi K.; Ryan, Michael T.; Okazaki, Yasushi; Stroud, David A.; Simons, Cas; Christodoulou, John; Thorburn, David R. 分享 收藏
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) Kaur, Simranpreet; Van Bergen, Nicole J.; Verhey, Kristen J.; Nowell, Cameron J.; Budaitis, Breane; Yue, Yang; Ellaway, Carolyn; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Bruno, Irene; Boyle, Lia; Nigro, Vincenzo; Torella, Annalaura; Roscioli, Tony; Cowley, Mark J.; Massey, Sean; Sonawane, Rhea; Burton, Matthew D.; Schonewolf-Greulich, Bitten; Tumer, Zeynep; Chung, Wendy K.; Gold, Wendy A.; Christodoulou, John 分享 收藏
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