Works by Kaplan, Paige

Results: 32

Revised recommendations for the management of Gaucher disease in children.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 4, p. 447, doi. 10.1007/s00431-012-1771-z

By:

Kaplan, Paige;
Baris, Hagit;
Meirleir, Linda;
Rocco, Maja;
El-Beshlawy, Amal;
Huemer, Martina;
Martins, Ana;
Nascu, Ioana;
Rohrbach, Marianne;
Steinbach, Lynne;
Cohen, Ian

Publication type:

Article

A disease severity scoring system for children with type 1 Gaucher disease.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 1, p. 39, doi. 10.1007/s00431-012-1830-5

By:

Kallish, Staci;
Kaplan, Paige

Publication type:

Article

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 6, p. 911, doi. 10.1007/s00431-011-1644-x

By:

D'Aco, Kristin;
Underhill, Lisa;
Rangachari, Lakshmi;
Arn, Pamela;
Cox, Gerald;
Giugliani, Roberto;
Okuyama, Torayuki;
Wijburg, Frits;
Kaplan, Paige

Publication type:

Article

Williams (Williams Beuren) Syndrome: A Distinct Neurobehavioral Disorder.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 3, p. 177, doi. 10.2310/7010.2001.18071

By:

Kaplan, Paige;
Wang, Paul P.;
Francke, Uta;
Ryan, Stephen G.

Publication type:

Article

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 51, doi. 10.1007/s10545-009-9007-8

By:

Harmatz, Paul;
Yu, Zi-Fan;
Giugliani, Roberto;
Schwartz, Ida;
Guffon, Nathalie;
Teles, Elisa;
Miranda, M.;
Wraith, J.;
Beck, Michael;
Arash, Laila;
Scarpa, Maurizio;
Ketteridge, David;
Hopwood, John;
Plecko, Barbara;
Steiner, Robert;
Whitley, Chester;
Kaplan, Paige;
Swiedler, Stuart;
Hardy, Karen;
Berger, Kenneth

Publication type:

Article

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Published in:

American Journal of Hematology, 2017, v. 92, n. 9, p. 929, doi. 10.1002/ajh.24801

By:

Mistry, Pramod K.;
Batista, Julie L.;
Andersson, Hans C.;
Balwani, Manisha;
Burrow, Thomas Andrew;
Charrow, Joel;
Kaplan, Paige;
Khan, Aneal;
Kishnani, Priya S.;
Kolodny, Edwin H.;
Rosenbloom, Barry;
Scott, C. Ronald;
Weinreb, Neal

Publication type:

Article

The history and accomplishments of the ICGG Gaucher registry.

Published in:

American Journal of Hematology, 2015, v. 90, p. S2, doi. 10.1002/ajh.24054

By:

Weinreb, Neal J.;
Kaplan, Paige

Publication type:

Article

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

Published in:

Nature Genetics, 2008, v. 40, n. 12, p. 1410, doi. 10.1038/ng.252

By:

Hennies, Hans Christian;
Kornak, Uwe;
Haikuo Zhang;
Egerer, Johannes;
Xin Zhang;
Seifert, Wenke;
Kühnisch, Jirko;
Budde, Birgit;
Nätebus, Marc;
Brancati, Francesco;
Wilcox, William R.;
Müller, Dietmar;
Kaplan, Paige B.;
Rajab, Anna;
Zampino, Giuseppe;
Fodale, Valentina;
Dallapiccola, Bruno;
Newman, William;
Metcalfe, Kay;
Clayton-Smith, Jill

Publication type:

Article

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

Published in:

Nature Genetics, 1999, v. 23, n. 3, p. 333, doi. 10.1038/15513

By:

Papadopoulou, Lefkothea C.;
Sue, Carolyn M.;
Davidson, Mercy M.;
Tanji, Kurenai;
Nishino, Ichizo;
Sadlock, James E.;
Krishna, Sindu;
Walker, Winsome;
Selby, Jeanette;
Glerum, D. Moira;
Coster, Rudy Van;
Lyon, Gilles;
Scalais, Emmanuel;
Lebel, Roger;
Kaplan, Paige;
Shanske, Sara;
De Vivo, Darryl C.;
Bonilla, Eduardo;
Hirano, Michio

Publication type:

Article

Stenosis of the Thoracic Aorta in Williams Syndrome.

Published in:

Pediatric Cardiology, 2010, v. 31, n. 6, p. 829, doi. 10.1007/s00246-010-9713-x

By:

Collins II, R. Thomas;
Kaplan, Paige;
Rome, Jonathan J.

Publication type:

Article

Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia.

Published in:

Pediatric Radiology, 2009, v. 39, n. 9, p. 1006, doi. 10.1007/s00247-009-1303-9

By:

Pena, Andres H.;
Kaplan, Paige;
Ganesh, Jaya;
Clevac, Egor;
Cahill, Anne Marie

Publication type:

Article

Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV.

Published in:

Pediatric & Developmental Pathology, 1999, v. 2, n. 1, p. 86, doi. 10.1007/s100249900095

By:

Collins, Margaret H.;
Schwarze, Ulrike;
Carpentieri, David F.;
Kaplan, Paige;
Nathanson, Katherine;
Meyer, James S.;
Byers, Peter H.

Publication type:

Article

Ventricular Hypertrophy on Electrocardiogram Correlates with Obstructive Lesion Severity in Williams Syndrome.

Published in:

Congenital Heart Disease, 2015, v. 10, n. 4, p. 302, doi. 10.1111/chd.12194

By:

Phomakay, Venusa;
Gossett, Jeffrey M.;
Kaplan, Paige B.;
Swearingen, Christopher J.;
Collins, R. Thomas

Publication type:

Article

A Case Report of Rapid Progressive Coarctation and Severe Middle Aortic Syndrome in an Infant with Williams Syndrome.

Published in:

Congenital Heart Disease, 2009, v. 4, n. 5, p. 373, doi. 10.1111/j.1747-0803.2009.00287.x

By:

Hall, E. Kevin;
Glatz, Jenifer;
Kaplan, Paige;
Kaplan, Bernard S.;
Hellinger, Jeffrey;
Ernst, Linda;
Gaynor, J. William

Publication type:

Article

Intestinal perforation in Ehlers-Danlos syndrome after enema treatment for constipation.

Published in:

1998

By:

Sentongo, Timothy A. S.;
Lichtenstein, Gary;
Nathanson, Katherine;
Kaplan, Paige;
Maller, Eric;
Sentongo, T A;
Lichtenstein, G;
Nathanson, K;
Kaplan, P;
Maller, E

Publication type:

journal article

Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency.

Published in:

2006

By:

Hoffman JD;
Steiner RD;
Paradise L;
Harding CO;
Ding L;
Strauss AW;
Kaplan P;
Hoffman, Jodi D;
Steiner, Robert D;
Paradise, Lori;
Harding, Carey O;
Ding, Li;
Strauss, Arnold W;
Kaplan, Paige

Publication type:

journal article

Rhabdomyolysis in the Military: Recognizing Late-Onset Very Long-Chain Acyl Co-A Dehydrogenase Deficiency.

Published in:

Military Medicine, 2006, v. 171, n. 7, p. 657, doi. 10.7205/MILMED.171.7.657

By:

Hoffman, Jodi D.;
Steiner, Robert D.;
Paradise, Lori;
Harding, Carey O.;
Li Ding;
Strauss, Arnold W.;
Kaplan, Paige

Publication type:

Article

Effect of Enzyme Replacement Therapy With Imiglucerase on BMD in Type 1 Gaucher Disease.

Published in:

Journal of Bone & Mineral Research, 2007, v. 22, n. 1, p. 119, doi. 10.1359/JBMR.061004

By:

Wenstrup, Richard J.;
Kacena, Katherine A.;
Kaplan, Paige;
Pastores, Gregory M.;
Prakash-Cheng, Ainu;
Zimran, Ari;
Hangartner, Thomas N.

Publication type:

Article

Williams Syndrome--Does Early Diagnosis Matter?

Published in:

2002

By:

Kaplan, Paige

Publication type:

Editorial

Safety and effectiveness of taliglucerase alfa in patients with Gaucher disease: an interim analysis of real-world data from a multinational drug registry (TALIAS).

Published in:

2022

By:

Titievsky, Lina;
Schuster, Tilman;
Wang, Ronnie;
Younus, Muhammad;
Palladino, Andrew;
Quazi, Kabir;
Wajnrajch, Michael P.;
Hernandez, Betina;
Becker, Pamela S.;
Weinreb, Neal J.;
Chambers, Christina;
Mansfield, Roy;
Taylor, Louise;
Tseng, Li-Jung;
Kaplan, Paige

Publication type:

journal article

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.

Published in:

2004

By:

Baldellou, Antonio;
Andria, Generoso;
Campbell, Pauline E.;
Charrow, Joel;
Grabowski, Gregory A.;
Kaplan, Paige;
McHugh, Kieran;
Mengel, Eugen;
Vellodi, Ashok;
Harris, Chris M.;
Cohen, Ian J.

Publication type:

journal article

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.

Published in:

European Journal of Pediatrics, 2004, v. 163, n. 2, p. 58

By:

Charrow, Joel;
Kaplan, Paige;
Mengel, Eugen;
Pocovi, Miguel;
Vellodi, Ashok;
Grabowski, Gregory A.;
Cohen, Ian J.;
Harris, Chris M.;
Andria, Generoso;
Baldellou, Antonio;
Campbell, Pauline E.

Publication type:

Article

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1890, doi. 10.1002/ajmg.a.40380

By:

Ritter, Alyssa L.;
McDougall, Carey;
Skraban, Cara;
Medne, Livija;
Bedoukian, Emma C.;
Asher, Stephanie B.;
Balciuniene, Jorune;
Campbell, Colleen D.;
Baker, Samuel W.;
Denenberg, Elizabeth H.;
Mazzola, Sarah;
Fiordaliso, Sarah K.;
Krantz, Ian D.;
Kaplan, Paige;
Ierardi‐Curto, Lynne;
Santani, Avni B.;
Zackai, Elaine H.;
Izumi, Kosuke

Publication type:

Article

Atypical Williams Syndrome in an Infant with Complete Atrioventricular Canal Defect.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3108, doi. 10.1002/ajmg.a.37288

By:

Ahrens‐Nicklas, Rebecca C.;
Reichert, Sara L.;
Zackai, Elaine H.;
Kaplan, Paige B.

Publication type:

Article

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 527, doi. 10.1002/ajmg.a.35784

By:

Delio, Maria;
Pope, Kathleen;
Wang, Tao;
Samanich, Joy;
Haldeman‐Englert, Chad R.;
Kaplan, Paige;
Shaikh, Tamim H.;
Cai, Jinlu;
Marion, Robert W.;
Morrow, Bernice E.;
Babcock, Melanie

Publication type:

Article

Leukoencephalopathy among native indian infants in northern Quebec and Manitoba.

Published in:

Annals of Neurology, 1988, v. 24, n. 4, p. 490, doi. 10.1002/ana.410240403

By:

Black, Deborah N.;
Booth, Fran;
Watters, Gordon V.;
Andermann, Eva;
Dumont, Charles;
Halliday, William C.;
Hoogstraten, J.;
Kabay, Michel E.;
Kaplan, Paige;
Meagher-Villemure, Kathleen;
Michaud, Jean;
O'gorman, Gus

Publication type:

Article

Encephalitis among cree children in northern Quebec.

Published in:

Annals of Neurology, 1988, v. 24, n. 4, p. 483, doi. 10.1002/ana.410240402

By:

Black, Deborah N.;
Watters, Gordon V.;
Andermann, Eva;
Dumont, Charles;
Kabay, Michel E.;
Kaplan, Paige;
Meagher-Villemure, Kathleen;
Michaud, Jean;
O'gorman, Gus;
Reece, Elena;
Tsoukas, Christos;
Wainberg, Marchk A.

Publication type:

Article

Microduplications of 16p11.2 are associated with schizophrenia.

Published in:

Nature Genetics, 2009, v. 41, n. 11, p. 1223, doi. 10.1038/ng.474

By:

McCarthy, Shane E.;
Makarov, Vladimir;
Kirov, George;
Addington, Anjene M.;
McClellan, Jon;
Seungtai Yoon;
Perkins, Diana O.;
Dickel, Diane E.;
Kusenda, Mary;
Krastoshevsky, Olga;
Krause, Verena;
Kumar, Ravinesh A.;
Grozeva, Detelina;
Malhotra, Dheeraj;
Walsh, Tom;
Zackai, Elaine H.;
Kaplan, Paige;
Ganesh, Jaya;
Krantz, Ian D.;
Spinner, Nancy B.

Publication type:

Article

Short-Term Safety of Zoledronic Acid in Young Patients With Bone Disorders: An Extensive Institutional Experience.

Published in:

2015

By:

George, Sobenna;
Weber, David R;
Kaplan, Paige;
Hummel, Kelly;
Monk, Heather M;
Levine, Michael A

Publication type:

journal article

MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation.

Published in:

Neuroradiology, 2003, v. 45, n. 6, p. 393, doi. 10.1007/s00234-003-0955-7

By:

Jan, Wajanat;
Zimmerman, Robert A.;
Wang, Zhiyue J.;
Berry, Gerard T.;
Kaplan, Paige B.;
Kaye, Edward M.

Publication type:

Article

Atypical glomerulopathy associated with the cblE inborn error of vitamin B metabolism.

Published in:

2013

By:

Paul, Erin;
Guttenberg, Marta;
Kaplan, Paige;
Watkins, David;
Rosenblatt, David;
Treat, James;
Kaplan, Bernard

Publication type:

Report

Cobalamin C deficiency complicated by an atypical glomerulopathy.

Published in:

Pediatric Nephrology, 2002, v. 17, n. 10, p. 800, doi. 10.1007/s00467-002-0895-1

By:

Brunelli, Steven M.;
Meyers, Kevin C.;
Guttenberg, Marta;
Kaplan, Paige;
Kaplan, Bernard S.

Publication type:

Article