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Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase
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Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

Harmatz, Paul ; Giugliani, Roberto ; D. Schwartz, Ida Vanessa ; Guffon, Nathalie ; Teles, Elisa Leão ; Miranda, M. Clara Sá ; Wraith, J. Edmond ; Beck, Michael ; Arash, Laila ; Scarpa, Maurizio ; Ketteridge, David ; Hopwood, John J. ; Plecko, Barbara ; Steiner, Robert ; Whitley, Chester B. ; Kaplan, Paige ; Yu, Zi-Fan ; Swiedler, Stuart J. ; Decker, Celeste

Molecular genetics and metabolism, 2008-08, Vol.94 (4), p.469-475 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening
Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening
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Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening

Pillai, Nishitha R. ; Fabie, Noelle Andrea V. ; Kaye, Tory V. ; Rosendahl, Sondra D. ; Ahmed, Alia ; Hietala, Amy D. ; Jorgenson, Alissa B. ; Lanpher, Brendan C. ; Whitley, Chester B.

Molecular genetics and metabolism, 2023-09, Vol.140 (1-2), p.107633-107633, Article 107633 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I
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Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I

Kovac, Victor ; Shapiro, Elsa G. ; Rudser, Kyle D. ; Mueller, Bryon A. ; Eisengart, Julie B. ; Delaney, Kathleen A. ; Ahmed, Alia ; King, Kelly E. ; Yund, Brianna D. ; Cowan, Morton J. ; Raiman, Julian ; Mamak, Eva G. ; Harmatz, Paul R. ; Shankar, Suma P. ; Ali, Nadia ; Cagle, Stephanie R. ; Wozniak, Jeffrey R. ; Lim, Kelvin O. ; Orchard, Paul J. ; Whitley, Chester B. ; Nestrasil, Igor

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.122-132 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment
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Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment

Shapiro, Elsa G. ; Nestrasil, Igor ; Rudser, Kyle ; Delaney, Kathleen ; Kovac, Victor ; Ahmed, Alia ; Yund, Brianna ; Orchard, Paul J. ; Eisengart, Julie ; Niklason, Gregory R. ; Raiman, Julian ; Mamak, Eva ; Cowan, Morton J. ; Bailey-Olson, Mara ; Harmatz, Paul ; Shankar, Suma P. ; Cagle, Stephanie ; Ali, Nadia ; Steiner, Robert D. ; Wozniak, Jeffrey ; Lim, Kelvin O. ; Whitley, Chester B.

Molecular genetics and metabolism, 2015-09, Vol.116 (1-2), p.61-68 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Newborn screening experience and outcome from a Minnesota Pompe disease consortium
Newborn screening experience and outcome from a Minnesota Pompe disease consortium
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Newborn screening experience and outcome from a Minnesota Pompe disease consortium

Pillai, Nishitha R. ; Fabie, Noelle A.V. ; Kaye, Tory V. ; Rosendahl, Sondra D. ; Ahmed, Alia ; Hietala, Amy D. ; Jorgenson, Alissa B. ; Lanpher, Brendan C. ; Whitley, Chester B.

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S98-S98 [Periódico revisado por pares]

Elsevier Inc

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6
Phenylketonuria Scientific Review Conference: State of the science and future research needs
Phenylketonuria Scientific Review Conference: State of the science and future research needs
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Phenylketonuria Scientific Review Conference: State of the science and future research needs

Camp, Kathryn M. ; Parisi, Melissa A. ; Acosta, Phyllis B. ; Berry, Gerard T. ; Bilder, Deborah A. ; Blau, Nenad ; Bodamer, Olaf A. ; Brosco, Jeffrey P. ; Brown, Christine S. ; Burlina, Alberto B. ; Burton, Barbara K. ; Chang, Christine S. ; Coates, Paul M. ; Cunningham, Amy C. ; Dobrowolski, Steven F. ; Ferguson, John H. ; Franklin, Thomas D. ; Frazier, Dianne M. ; Grange, Dorothy K. ; Greene, Carol L. ; Groft, Stephen C. ; Harding, Cary O. ; Howell, R. Rodney ; Huntington, Kathleen L. ; Hyatt-Knorr, Henrietta D. ; Jevaji, Indira P. ; Levy, Harvey L. ; Lichter-Konecki, Uta ; Lindegren, Mary Lou ; Lloyd-Puryear, Michele A. ; Matalon, Kimberlee ; MacDonald, Anita ; McPheeters, Melissa L. ; Mitchell, John J. ; Mofidi, Shideh ; Moseley, Kathryn D. ; Mueller, Christine M. ; Mulberg, Andrew E. ; Nerurkar, Lata S. ; Ogata, Beth N. ; Pariser, Anne R. ; Prasad, Suyash ; Pridjian, Gabriella ; Rasmussen, Sonja A. ; Reddy, Uma M. ; Rohr, Frances J. ; Singh, Rani H. ; Sirrs, Sandra M. ; Stremer, Stephanie E. ; Tagle, Danilo A. ; Thompson, Susan M. ; Urv, Tiina K. ; Utz, Jeanine R. ; van Spronsen, Francjan ; Vockley, Jerry ; Waisbren, Susan E. ; Weglicki, Linda S. ; White, Desirée A. ; Whitley, Chester B. ; Wilfond, Benjamin S. ; Yannicelli, Steven ; Young, Justin M.

Molecular genetics and metabolism, 2014-06, Vol.112 (2), p.87-122 [Periódico revisado por pares]

United States: Elsevier Inc

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7
A longitudinal report of neurocognitive abnormalities and their impact on quality of life in non-neuronopathic MPS II
A longitudinal report of neurocognitive abnormalities and their impact on quality of life in non-neuronopathic MPS II
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A longitudinal report of neurocognitive abnormalities and their impact on quality of life in non-neuronopathic MPS II

Yund, Brianna D. ; Rudser, Kyle ; Shapiro, Elsa ; King, Kelly E. ; Kunin-Batson, Alicia ; Whitley, Chester B. ; Eisengart, Julie B.

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S115-S115 [Periódico revisado por pares]

Elsevier Inc

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8
Complex neurocognitive function and quality of life in Morquio and Maroteaux-Lamy syndromes: A longitudinal investigation
Complex neurocognitive function and quality of life in Morquio and Maroteaux-Lamy syndromes: A longitudinal investigation
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Complex neurocognitive function and quality of life in Morquio and Maroteaux-Lamy syndromes: A longitudinal investigation

Yund, Brianna D. ; Rudser, Kyle ; Diethelm-Okita, Brenda ; King, Kelly ; Kunin-Batson, Alicia ; Oliveira, Maria Carolina F.A. ; Grant, Nathan ; Whitley, Chester B. ; Eisengart, Julie B.

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S130-S130 [Periódico revisado por pares]

Elsevier Inc

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9
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients
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START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients

Utz, Jeanine R. Jarnes ; Lorentz, Cindy Pham ; Markowitz, Dorothy ; Rudser, Kyle D. ; Diethelm-Okita, Brenda ; Erickson, David ; Whitley, Chester B.

Molecular genetics and metabolism, 2012-02, Vol.105 (2), p.193-197 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I
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Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I

Nestrasil, Igor ; Kovac, Victor ; Shapiro, Elsa G. ; Rudser, Kyle D. ; Mueller, Bryon A. ; Eisengart, Julie B. ; Delaney, Kathleen A. ; Ahmed, Alia ; King, Kelly E. ; Yund, Brianna D. ; Cowan, Morton J. ; Raiman, Julian ; Mamak, Eva G. ; Harmatz, Paul R. ; Shankar, Suma P. ; Ali, Nadia ; Cagle, Stephanie R. ; Wozniak, Jeffrey R. ; Lim, Kelvin O. ; Orchard, Paul J. ; Whitley, Chester B.

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S88-S88 [Periódico revisado por pares]

Elsevier Inc

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