Suyash Prasad

Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance.

Authors:

Tina Duong Gale Harding Sally Mannix Cristina Abel Dawn Phillips Lindsay N Alfano Carsten G Bönnemann Charlotte Lilien Linda P Lowes Laurent Servais Birgit Warken-Madelung Susie Nieto Bergman Emma S James Mojtaba Noursalehi Suyash Prasad Salvador Rico Deborah A Bilder

J Neuromuscul Dis 2021 ;8(1):63-77

University of Utah, Salt Lake City, UT, USA.

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January 2021

Disease burden of Crigler-Najjar syndrome: Systematic review and future perspectives.

Authors:

Anil Dhawan Michael W Lawlor George V Mazariegos Patrick McKiernan James E Squires Kevin A Strauss Digant Gupta Emma James Suyash Prasad

J Gastroenterol Hepatol 2020 Apr 24;35(4):530-543. Epub 2019 Oct 24.

Audentes Therapeutics, San Francisco, CA, USA.

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April 2020

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

Authors:

Robert J Graham Francesco Muntoni Imelda Hughes Sabrina W Yum Nancy L Kuntz Michele L Yang Barry J Byrne Suyash Prasad Rachel Alvarez Casie A Genetti Tmirah Haselkorn Emma S James Laurie B LaRusso Mojtaba Noursalehi Salvador Rico Alan H Beggs

Arch Dis Child 2020 04 4;105(4):332-338. Epub 2019 Sep 4.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA

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April 2020

A Systematic Review of the Health Economics of Pompe Disease.

Authors:

Benedikt Schoser Andreas Hahn Emma James Digant Gupta Matthew Gitlin Suyash Prasad

Pharmacoecon Open 2019 Dec;3(4):479-493

Audentes Therapeutics, 600 California Street, Floor 17, San Francisco, CA, 94108, USA.

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December 2019

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.

Authors:

Benedikt Schoser Deborah A Bilder David Dimmock Digant Gupta Emma S James Suyash Prasad

BMC Neurol 2017 Nov 22;17(1):202. Epub 2017 Nov 22.

Audentes Therapeutics, 600 California Street, Floor 17, San Francisco, CA, 94104, USA.

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November 2017

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.

Authors:

Alan H Beggs Barry J Byrne Sabine De Chastonay Tmirah Haselkorn Imelda Hughes Emma S James Nancy L Kuntz Jennifer Simon Lindsay C Swanson Michele L Yang Zi-Fan Yu Sabrina W Yum Suyash Prasad

Muscle Nerve 2018 04 22;57(4):550-560. Epub 2017 Dec 22.

Audentes Therapeutics, San Francisco, California, USA.

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April 2018

Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria.

Authors:

Deborah A Bilder J Kay Noel Erin R Baker William Irish Yinpu Chen Markus J Merilainen Suyash Prasad Barbara J Winslow

Dev Neuropsychol 2016 May-Jun;41(4):245-260. Epub 2016 Nov 2.

c BioMarin Pharmaceutical Inc ., Novato , California.

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July 2017

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.

Authors:

Michael W Lawlor Alan H Beggs Ana Buj-Bello Martin K Childers James J Dowling Emma S James Hui Meng Steven A Moore Suyash Prasad Benedikt Schoser Caroline A Sewry

J Neuropathol Exp Neurol 2016 Feb;75(2):102-10

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February 2016

Evaluation of Neuropsychiatric Function in Phenylketonuria: Psychometric Properties of the ADHD Rating Scale-IV and Adult ADHD Self-Report Scale Inattention Subscale in Phenylketonuria.

Authors:

Kathleen W Wyrwich Priscilla Auguste Ren Yu Charlie Zhang Benjamin Dewees Barbara Winslow Shui Yu Markus Merilainen Suyash Prasad

Value Health 2015 Jun 4;18(4):404-12. Epub 2015 Apr 4.

BioMarin Pharmaceutical, Inc., Novato, CA, USA.

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June 2015

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy.

Authors:

Nicola Longo Komudi Siriwardena Annette Feigenbaum David Dimmock Barbara K Burton Sylvia Stockler Susan Waisbren William Lang Elaina Jurecki Charlie Zhang Suyash Prasad

Genet Med 2015 May 18;17(5):365-73. Epub 2014 Sep 18.

BioMarin Pharmaceutical, Inc., Novato, California, USA.

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May 2015

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Authors:

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

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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June 2014

Recommendations for the use of sapropterin in phenylketonuria.

Authors:

Amy Cunningham Heather Bausell Mary Brown Maggie Chapman Kari DeFouw Sharon Ernst Julie McClure Helen McCune Donna O'Steen Amy Pender Jill Skrabal Ann Wessel Elaina Jurecki Renée Shediac Suyash Prasad Jane Gillis Stephen Cederbaum

Mol Genet Metab 2012 Jul 13;106(3):269-76. Epub 2012 Apr 13.

Tulane Hayward Genetics Center, New Orleans, LA, USA.

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July 2012

The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.

Authors:

Mark Roberts Priya S Kishnani Ans T van der Ploeg Wolfgang Müller-Felber Luciano Merlini Suyash Prasad Laura E Case

Mol Genet Metab 2011 Dec 16;104(4):574-82. Epub 2011 Aug 16.

Salford Royal NHS Foundation Trust, Salford, UK.

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December 2011

Pompe disease: design, methodology, and early findings from the Pompe Registry.

Authors:

Barry J Byrne Priya S Kishnani Laura E Case Luciano Merlini Wolfgang Müller-Felber Suyash Prasad Ans van der Ploeg

Mol Genet Metab 2011 May 11;103(1):1-11. Epub 2011 Feb 11.

Department of Pediatrics, University of Florida, College of Medicine, PO Box 100296, Gainesville, FL 32610, USA.

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May 2011

Disease registries and outcomes research in children: focus on lysosomal storage disorders.

Authors:

Simon Jones Emma James Suyash Prasad

Paediatr Drugs 2011 Feb;13(1):33-47

Willink Unit, Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, St Marys Hospital, Manchester, UK.

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February 2011