作者：Dawn Phillips^a ; ^{dawnphillipspt@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Laura E. Case^b ; ^{laura.case@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Donna Griffin^c ; ^{dgriffin@shrinenet.org" class="auth_mail" title="E-mail the corresponding author} ; Kim Hamilton^d ; ^{kimberly_erin@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Sergio Lerma Lara^e ; ^{sergio.lerma@lasallecampus.es" class="auth_mail" title="E-mail the corresponding author} ; Beth Leiro^f ; ^{beth.leiro@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Jessica Monfreda^g ; ^{jessica.monfreda@cchmc.org" class="auth_mail" title="E-mail the corresponding author} ; Elaine Westlake^g ; ^h ; ^{elainewestlakept@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Priya S. Kishnaniⁱ ; ^{priya.kishnani@duke.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：ADL ; activities of daily living ; BOT-2 ; Bruininks-Oseretsky Test of Motor Proficiency ; Second Edition ; CHAQ ; Childhood Health Assessment Questionnaire ; FLACC ; Face ; Legs ; Activity ; Cry ; Consolability Scale ; HPP ; hypophosphatasia ; N-PASS ; Neonatal Pain ; Agitation and Sedation Scale ; Pi ; inorganic phosphate ; PLP ; pyridoxal-5&prime ; -phosphate ; PODCI ; Pediatric Outcomes Data Collection Instrument ; PPi ; inorganic pyrophosphate ; PRO ; patient-reported outcome measure ; PT ; physical therapy ; ROM ; range o

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Harrison N. Jones^a ; ^{harrison.jones@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Kelly D. Crisp^b ; ^{kelly.crisp@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Randall R. Robey^c ; ^{rrr7w@eservices.virginia.edu" class="auth_mail" title="E-mail the corresponding author} ; Laura E. Case^d ; ^{laura.case@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Richard M. Kravitz^e ; ^{richard.kravitz@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Priya S. Kishnani^f ; ^{priya.kishnani@duke.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Glycogen storage disease type II ; Skeletal muscle ; Exercise ; Rehabilitation ; Breathing exercises

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Mark  ; Roberts^a ;   ; ¹ ;   ; ^{mark.roberts@srft.nhs.uk} ; Priya S.  ; Kishnani^b ;   ; ¹ ;   ; ^{kishn001@mc.duke.edu} ; Ans T.  ; van der Ploeg^c ;   ; ¹ ;   ; ^{a.vanderploeg@erasmusmc.nl} ; Wolfgang  ; Mü ; ller-Felber^d ;   ; ¹ ;   ; ^{Wolfgang.Mueller-Felber@med.uni-muenchen.de} ; Luciano  ; Merlini^e ;   ; ¹ ;   ; ^{luciano.merlini@ior.it} ; Suyash  ; Prasad^f ;   ; ¹ ;   ; ^{suyash@suyashprasad.com} ; Laura E.  ; Case^g ;   ; ¹ ;   ; ^{laura.case@duke.edu}

关键词：Pompe disease ; Neuromuscular scoliosis ; Pompe Registry ; Ambulation status ; Pulmonary function

刊名：Molecular Genetics and Metabolism

出版年：2011