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Paige Kaplan | doi.page

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Paige Kaplan

Montreal Neurological Institute and Hospital(CA)Montreal Children's Hospital(CA)

Publications by Year

Research Areas

Lysosomal Storage Disorders Research, Williams Syndrome Research, Carbohydrate Chemistry and Synthesis, Metabolism and Genetic Disorders, Trypanosoma species research and implications

Most-Cited Works

→ Microduplications of 16p11.2 are associated with schizophrenia(2009)732 cited
→ The Gaucher Registry(2000)582 cited
→ Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene(1999)570 cited
→ 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(2002)541 cited
→ Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome(1996)318 cited
→ Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)(2004)274 cited

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

(1996)

→ 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(2008)216 cited

→ The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I(2007)203 cited

→ The Clinical and Demographic Characteristics of Nonneuronopathic Gaucher Disease in 887 Children at Diagnosis(2006)200 cited