P
Paige Kaplan
Researcher at Children's Hospital of Philadelphia
Publications - 132
Citations - 8685
Paige Kaplan is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Enzyme replacement therapy & Imiglucerase. The author has an hindex of 47, co-authored 131 publications receiving 8072 citations. Previous affiliations of Paige Kaplan include University of Pennsylvania & Montreal Children's Hospital.
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Journal ArticleDOI
Microduplications of 16p11.2 are Associated with Schizophrenia
Shane McCarthy,Vladimir Makarov,George Kirov,Anjené M. Addington,Jon McClellan,Seungtai Yoon,Diana O. Perkins,Diane E. Dickel,Mary Kusenda,Mary Kusenda,Olga Krastoshevsky,Verena Krause,Ravinesh A. Kumar,D. Grozeva,Dheeraj Malhotra,Tom Walsh,Elaine H. Zackai,Paige Kaplan,Jaya Ganesh,Ian D. Krantz,Nancy B. Spinner,Patricia Roccanova,Abhishek Bhandari,Kevin Pavon,B. Lakshmi,B. Lakshmi,Anthony Leotta,Jude Kendall,Yoon-ha Lee,Vladimir Vacic,Sydney Gary,Lilia M. Iakoucheva,Timothy J. Crow,Susan L. Christian,Jeffrey A. Lieberman,T. Scott Stroup,Terho Lehtimäki,Kaija Puura,Chad R. Haldeman-Englert,Justin Pearl,Meredith Goodell,Virginia L. Willour,Pamela DeRosse,Jo Steele,Layla Kassem,Jessica Wolff,Nisha Chitkara,Francis J. McMahon,Anil K. Malhotra,James B. Potash,Thomas G. Schulze,Thomas G. Schulze,Markus M. Nöthen,Sven Cichon,Marcella Rietschel,Marcella Rietschel,Ellen Leibenluft,Vlad Kustanovich,Clara Lajonchere,James S. Sutcliffe,David Skuse,Michael Gill,Louise Gallagher,Nancy R. Mendell,Nicholas John Craddock,Michael John Owen,Michael Conlon O'Donovan,Tamim H. Shaikh,Ezra Susser,Lynn E. DeLisi,Lynn E. DeLisi,Patrick F. Sullivan,Curtis K. Deutsch,Curtis K. Deutsch,Judith L. Rapoport,Deborah L. Levy,Mary Claire King,Jonathan Sebat +77 more
TL;DR: A meta-analysis of datasets for multiple psychiatric disorders showed a significant association of the microduplication with schizophrenia, bipolar disorder, and autism, while the reciprocal microdeletion was associated only with autism and developmental disorders.
Journal ArticleDOI
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
Lefkothea C. Papadopoulou,Carolyn M. Sue,Mercy M. Davidson,Kurenai Tanji,Ichizo Nishino,James E. Sadlock,Sindu Krishna,Winsome F. Walker,J Selby,D M Glerum,Rudy Van Coster,Gholson J. Lyon,E Scalais,R Lebel,Paige Kaplan,S. Shanske,Darryl C. De Vivo,Eduardo Bonilla,Michio Hirano,Salvatore DiMauro,Eric A. Schon +20 more
TL;DR: Mammalian cytochrome c oxidase (COX) catalyses the transfer of reducing equivalents from cy tochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane and mutations in the human homologue, SCO2, in three unrelated infants with a newly recognized fatal cardioencephalomyopathy and COX deficiency are identified.
Journal ArticleDOI
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry
Neal J. Weinreb,Joel Charrow,Hans C. Andersson,Paige Kaplan,Edwin H. Kolodny,Pramod K. Mistry,Gregory M. Pastores,Barry E. Rosenbloom,C. Ronald Scott,Rebecca S. Wappner,Ari Zimran +10 more
TL;DR: Enzyme replacement therapy prevents progressive manifestations of Gaucher disease, and ameliorates Gaucher Disease-associated anemia, thrombocytopenia, organomegaly, bone pain, and bone crises.
Journal ArticleDOI
The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.
Joel Charrow,Hans C. Andersson,Paige Kaplan,Edwin H. Kolodny,Pramod K. Mistry,Gregory M. Pastores,Barry E. Rosenbloom,C. Ronald Scott,Rebecca S. Wappner,Neal J. Weinreb,Ari Zimran +10 more
TL;DR: The Registry will be useful in evaluating the effects of specific therapies in GD and the possible influences of environment, ethnicity, and genotype on the natural history of the disorder.
Journal ArticleDOI
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
Paul Harmatz,Chester B. Whitley,Lewis Waber,Ray C. Pais,Robert D. Steiner,Barbara Plecko,Paige Kaplan,Julie Simon,Ellen Butensky,John J. Hopwood +9 more
TL;DR: In this paper, the safety and efficacy of weekly treatment with human recombinant N-acetylgalactosamine 4-sulfatase (rhASB) in humans with mucopolysaccharidosis type VI (MPS VI) was evaluated.