Search Results - "Henderson, Nadene"

Newborn Screening for Pompe Disease: Pennsylvania Experience by Ficicioglu, Can, Ahrens-Nicklas, Rebecca C., Barch, Joshua, Cuddapah, Sanmati R., DiBoscio, Brenda S., DiPerna, James C., Gordon, Patricia L., Henderson, Nadene, Menello, Caitlin, Luongo, Nicole, Ortiz, Damara, Xiao, Rui

“…Pennsylvania started newborn screening for Pompe disease in February 2016. Between February 2016 and December 2019, 531,139 newborns were screened…”
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Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy by Cabrera-Salazar, Mario A, O'Rourke, Erin, Henderson, Nadene, Wessel, Howard, Barranger, John A

“…Background: The excessive storage of cellular debris in the lysosomal storage disorders triggers a variety of cellular responses. Some of these responses are…”
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Dual genetic diagnoses in a lysosomal disorders' patient population by Williams, Kaylee, Henderson, Nadene, Barch, Joshua, Ortiz, Damara

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More frequent dosing with agalsidase beta: An update to our Fabry disease cohort by Henderson, Nadene D., Lahr, Ashley, Forsyth, RaeLynn, Stuebing, Emily, Ortiz, Damara

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Transition to eliglustat in an individual with Gaucher disease type 1 on antipsychotic medication by Ortiz, Damara, Barch, Joshua, Segady, Kayla, Henderson, Nadene

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Analysis of parent perception of newborn screening for lysosomal disorders by Lahr, Ashley, Henderson, Nadene, Ortiz, Damara, Barch, Joshua

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Phenocopy of acroparesthesias complicating a Fabry disease diagnosis by Henderson, Nadene D., Barch, Joshua, Segady, Kayla, Ortiz, Damara N.

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Alternative agalsidase beta dosing strategies in a combined cohort by Henderson, Nadene D., Segady, Kayla, Barch, Joshua, Ortiz, Damara

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Alternative dosing strategies among a variety of patients with lysosomal diseases by Henderson, Nadene D., Segady, Kayla, Barch, Joshua, Williams, Kaylee, Lahr, Ashley, Ortiz, Damara N.

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A review of provider experiences with newborn screening for Krabbe disease in Pennsylvania by Williams, Kaylee, Menello, Caitlin, Henderson, Nadene D., Engelhardt, Nicole, Lahr, Ashley, Schmidt, Sarah, Ficicioglu, Can, Ortiz, Damara

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Fabry Disease practice resource: Focused revision by Henderson, Nadene, Berry, Lisa, Laney, Dawn A.

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The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? by Weinreb, Neal J., Goker-Alpan, Ozlem, Kishnani, Priya S., Longo, Nicola, Burrow, T. Andrew, Bernat, John A., Gupta, Punita, Henderson, Nadene, Pedro, Helio, Prada, Carlos E., Vats, Divya, Pathak, Ravi R., Wright, Ekaterina, Ficicioglu, Can

“…Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that often presents in early childhood and is associated with damage to…”
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Increased frequency of enzyme replacement therapy in a Fabry disease cohort by Henderson, Nadene D., Barch, Joshua, Segady, Kayla, Hoenig, Megan, Ortiz, Damara

“…Fabry disease is a lysosomal storage disease caused by deficiency of the enzyme, alpha-galactosidase. Enzyme replacement therapy (ERT) in Fabry disease has…”
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A case of Schindler disease in the setting of familial cardiomyopathy by Ortiz, Damara, Henderson, Nadene, Acquaro, Roxanne, Donti, Taraka, Cathey, Sara, Pollard, Laura, Wood, Tim, Liu, Pengfei, Eng, Christine M.

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The Pennsylvania newborn screening experience for Pompe disease by Henderson, Nadene D., Ficicioglu, Can, Ortiz, Damara, Ahrens-Nicklas, Rebecca, Gordon, Patricia, Ieradi-Curto, Lynne, Cuddapah, Sanmati, El-Gharbawy, Areeg, Lichter-Konecki, Uta, Sebastien, Jessica, Byers, Stephanie, Dobrowolski, Steven, Higa, Leigh Ann, Vockley, Gerard, Culley, Lani

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Postnatal Pancraniosynostosis in a Patient with Infantile Hypophosphatasia by Nahabet, Edward H., Gatherwright, James, Vockley, Jerry, Henderson, Nadene, Tomei, Krystal L., Grigorian, Adriana P., Kaminski, Beth, Bass, Nancy, Selman, Warren R., Lakin, Gregory E.

“…Hypophosphatasia is a rare metabolic bone disorder that predisposes patients to craniosynostosis. Typically, patients born with hypophosphatasia will exhibit…”
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40. The transition from childhood to adulthood in patients with lysosomal storage disorders by Henderson, Nadene, Finegold, David, Douglas, Heather

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