Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease

Authors: Rasmussen, Carly A., Quadri, Allegra, Vucko, Erika, Kim, Katherine, Hickey, Rachel, Baker, Joshua J., Charrow, Joel, Prada, Carlos E.

Source: In Molecular Genetics and Metabolism January 2024 141(1)

Newborn screening for mucopolysaccharidosis type II: Lessons learned

Authors: Burton, Barbara K., Shively, Vera, Quadri, Allegra, Warn, Lauren, Burton, Jennifer, Grange, Dorothy K., Christensen, Katherine, Groepper, Daniel, Ashbaugh, Laura, Ehrhardt, Joan, Basheeruddin, Khaja

Source: In Molecular Genetics and Metabolism September-October 2023 140(1-2)

Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1.

Authors: Herbster, Jack¹, jackherbster4@gmail.com, Prada, Carlos E.^2,3, Rasmussen, Carly A.³, Quadri, Allegra³, Kuritza, Victoria⁴, Viglione, Michael⁵, Hoyer, Sheryl⁴

Source: American Journal of Medical Genetics. Part A; Dec2024, Vol. 194 Issue 12, p1-4, 4p

Retrospective chart review of Gaucher disease type 1 patients homozygous for the p.N409S variant

Authors: Quadri, Allegra M., Charrow, Joel, Prada, Carlos E.

Source: In Molecular Genetics and Metabolism February 2025 144(2)

Social determinants of health in the mucopolysaccharidoses

Authors: Izdebski, Monika, Hickey, Rachel, Kim, Katherine H., Paltzer, Allison, Paras, Andrea, Quadri, Allegra M., Rasmussen, Carly, Sawin, Michael, Shim, Soo, Vucko, Erika, Baker, Joshua

Source: In Molecular Genetics and Metabolism February 2025 144(2)

Hips don't lie: Utility of imaging in individuals with Gaucher disease

Authors: Prada, Carlos E., Rasmussen, Carly, Quadri, Allegra M., Izdebski, Monika

Source: In Molecular Genetics and Metabolism February 2024 141(2)

P445: A Sotos syndrome case report: Describing the complex work-up following a variant of uncertain significance in the NSD1 gene

Authors: Quadri, Allegra, Heald, Cassandra, McRae, Anne, Baker, Joshua

Source: In Genetics in Medicine Open 2024 2 Supplement 1

Newborn screening for Krabbe disease in Illinois: A single center's experience

Authors: Walsh, Chelsey N., Hickey, Rachel E., Burton, Barbara K., Charrow, Joel, Kim, Katherine H., Quadri, Allegra, Rubin, Jennifer P., Hitchens, Lauren E., Baker, Joshua

Source: Molecular genetics and metabolism. 135(2):S125-S126

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154951498.0x000001&indx=1&recIds=ETOCvdc_100154951498.0x000001

Population-based newborn screening for mucopolysaccharidosis type II: A single center's experience

Authors: Quadri, Allegra M., Kim, Katherine H., Hickey, Rachel E., Paras, Andrea, Baker, Joshua, Charrow, Joel, Burton, Barbara K.

Source: Molecular genetics and metabolism. 132(2):S89-S90

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128895054.0x000001&indx=1&recIds=ETOCvdc_100128895054.0x000001

Outcome in infants treated with very early ERT supports newborn screening for mucopolysaccharidosis type II

Authors: Quadri, Allegra, Shively, Vera P., Burton, Barbara K.

Source: Molecular genetics and metabolism. 135(2):S102-S102

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154952118.0x000001&indx=1&recIds=ETOCvdc_100154952118.0x000001

eP524 - Newborn screening for mucopolysaccharidosis type II: a single center’s experience

Authors: Quadri, Allegra, Kim, Katherine, Hickey, Rachel, Paras, Andrea, Baker, Joshua, Charrow, Joel, Burton, Barbara

Source: In Molecular Genetics and Metabolism April 2021 132 Supplement 1:S340-S341

Case review: Fabry disease and burden of aortic dilation on female patients.

Authors: Sathish, Karthik¹ (AUTHOR), Quadri, Allegra¹ (AUTHOR), Tobin, Margaret¹ (AUTHOR), Prada, Carlos¹ (AUTHOR), Baker, Joshua¹ (AUTHOR)

Source: Molecular Genetics & Metabolism. Apr2024, Vol. 141 Issue 4, pN.PAG-N.PAG. 1p.

Subject Terms: *ANGIOKERATOMA corporis diffusum, *WOMEN patients

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