Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia von Whyte, Michael P, Greenberg, Cheryl R, Salman, Nada J, Bober, Michael B, McAlister, William H, Wenkert, Deborah, Van Sickle, Bradley J, Simmons, Jill H, Edgar, Terence S, Bauer, Martin L, Hamdan, Mohamed A, Bishop, Nick, Lutz, Richard E, McGinn, Mairead, Craig, Stanley, Moore, Jean N, Taylor, John W, Cleveland, Robert H, Cranley, William R, Lim, Ruth, Thacher, Tom D, Mayhew, Jill E, Downs, Matthew, Millán, José Luis, Skrinar, Alison M, Crine, Philippe, Landy, Hal

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A computer adaptive testing approach for assessing physical functioning in children and adolescents von Haley, Stephen M, Ni, Pengsheng, Fragala-Pinkham, Maria A, Skrinar, Alison M, Corzo, Deyanira

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A physical performance measure for individuals with mucopolysaccharidosis type I von Haley, Stephen M, Fragala Pinkham, Maria A, Dumas, Helene M, Ni, Pengsheng, Skrinar, Alison M, Cox, Gerald F

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Pompe disease and physical disability von Haley, Stephen M, Fragala, Maria A, Skrinar, Alison M

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Pediatric physical functioning reference curves von Haley, Stephen M., Fragala-Pinkham, Maria A., Ni, Peng Sheng, Skrinar, Alison M., Kaye, Edward M.

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Pompe disease and physical disability von Haley, Stephen M, Fragala, Maria A, Skrinar, Alison M

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Physical performance testing in mucopolysaccharidosis I: a pilot study von Dumas, Helene M., Fragala, Maria A., Haley, Stephen M., Skrinar, Alison M., Wraith, James E., Cox, Gerald F.

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The emerging role of the pediatric physical therapist in evaluation and intervention for individuals with lysosomal storage diseases von Haley, Stephen M, Fragala-Pinkham, Maria, Latham, Nancy K, Skrinar, Alison M, Cogswell, Deborah

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A physical performance measure for individuals with mucopolysaccharidosis type I von Haley, Stephen M, Pinkham, Maria A Fragala, Dumas, Helene M, Ni, Pengsheng, Skrinar, Alison M, Cox, Gerald F

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A computer adaptive testing approach for assessing physical functioning in children and adolescents von Haley, Stephen M, Ni, Pengsheng, Fragala‐Pinkham, Maria A, Skrinar, Alison M, Corzo, Deyanira

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Development of a disease-specific disability instrument for Pompe disease von Haley, Stephen M., Fragala, Maria A., Aseltine, Robert, Ni, Pengsheng, Skrinar, Alison M.

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Burosumab Therapy in Children with X-Linked Hypophosphatemia von Carpenter, Thomas O, Whyte, Michael P, Imel, Erik A, Boot, Annemieke M, Högler, Wolfgang, Linglart, Agnès, Padidela, Raja, van’t Hoff, William, Mao, Meng, Chen, Chao-Yin, Skrinar, Alison, Kakkis, Emil, San Martin, Javier, Portale, Anthony A

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A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease von van der Ploeg, Ans T, Clemens, Paula R, Corzo, Deyanira, Escolar, Diana M, Florence, Julaine, Groeneveld, Geert Jan, Herson, Serge, Kishnani, Priya S, Laforet, Pascal, Lake, Stephen L, Lange, Dale J, Leshner, Robert T, Mayhew, Jill E, Morgan, Claire, Nozaki, Kenkichi, Park, Dorothy J, Pestronk, Alan, Rosenbloom, Barry, Skrinar, Alison, van Capelle, Carine I, van der Beek, Nadine A, Wasserstein, Melissa, Zivkovic, Sasa A

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Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia von Padidela, Raja, Whyte, Michael P., Glorieux, Francis H., Munns, Craig F., Ward, Leanne M., Nilsson, Ola, Portale, Anthony A., Simmons, Jill H., Namba, Noriyuki, Cheong, Hae Il, Pitukcheewanont, Pisit, Sochett, Etienne, Högler, Wolfgang, Muroya, Koji, Tanaka, Hiroyuki, Gottesman, Gary S., Biggin, Andrew, Perwad, Farzana, Williams, Angela, Nixon, Annabel, Sun, Wei, Chen, Angel, Skrinar, Alison, Imel, Erik A.

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Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial von Imel, Erik A, Glorieux, Francis H, Whyte, Michael P, Munns, Craig F, Ward, Leanne M, Nilsson, Ola, Simmons, Jill H, Padidela, Raja, Namba, Noriyuki, Cheong, Hae Il, Pitukcheewanont, Pisit, Sochett, Etienne, Högler, Wolfgang, Muroya, Koji, Tanaka, Hiroyuki, Gottesman, Gary S, Biggin, Andrew, Perwad, Farzana, Mao, Meng, Chen, Chao-Yin, Skrinar, Alison, San Martin, Javier, Portale, Anthony A

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Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia von Linglart, Agnès, Imel, Erik A, Whyte, Michael P, Portale, Anthony A, Högler, Wolfgang, Boot, Annemieke M, Padidela, Raja, Van't Hoff, William, Gottesman, Gary S, Chen, Angel, Skrinar, Alison, Scott Roberts, Mary, Carpenter, Thomas O

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Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia von Ward, Leanne M, Glorieux, Francis H, Whyte, Michael P, Munns, Craig F, Portale, Anthony A, Hogler, Wolfgang, Simmons, Jill H, Gottesman, Gary S, Padidela, Raja, Namba, Noriyuki, Cheong, Hae Il, Nilsson, Ola, Mao, Meng, Chen, Angel, Skrinar, Alison, Roberts, Mary Scott, Imel, Erik A

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Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score von Thacher, Tom D., Pettifor, John M., Tebben, Peter J., Creo, Ana L., Skrinar, Alison, Mao, Meng, Chen, Chao-Yin, Chang, Ting, San Martin, Javier, Carpenter, Thomas O.

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Clinical features of late-onset Pompe disease: A prospective cohort study von Wokke, John H.J., Escolar, Diana M., Pestronk, Alan, Jaffe, Kenneth M., Carter, Gregory T., van den Berg, Leonard H., Florence, Julaine M., Mayhew, Jill, Skrinar, Alison, Corzo, Deyanira, Laforet, Pascal

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Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease von Nicolino, Marc, Byrne, Barry, Wraith, J Edmund, Leslie, Nancy, Mandel, Hanna, Freyer, David R, Arnold, Georgianne L, Pivnick, Eniko K, Ottinger, C J, Robinson, Peter H, Loo, John-Charles A, Smitka, Martin, Jardine, Philip, Tatò, Luciano, Chabrol, Brigitte, McCandless, Shawn, Kimura, Shigemi, Mehta, L, Bali, Deeksha, Skrinar, Alison, Morgan, Claire, Rangachari, Lakshmi, Corzo, Deya, Kishnani, Priya S

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