Review of miglustat for clinical management in Gaucher disease type 1

por Ficicioglu, Can
Publicado 2008

New tools and approaches to newborn screening: ready to open Pandora's box?

por Ficicioglu, Can
Publicado 2017

The Editor’s Choice for Issue 2, Volume 7

por Ficicioglu, Can
Publicado 2021

Addition of MPS-II to the Recommended Uniform Screening Panel in the United States

por Millington, David S., Ficicioglu, Can
Publicado 2022

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency

por Pritchard, Amanda Barone, Strong, Alanna, Ficicioglu, Can
Publicado 2020

Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficie...

por Dowsett, Leah, Lulis, Lauren, Ficicioglu, Can, Cuddapah, Sanmati
Publicado 2017

Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening

por Gold, Jessica I., Campbell, Ian M., Ficicioglu, Can
Publicado 2021

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

por Ficicioglu, Can, Giugliani, Roberto, Harmatz, Paul, Mendelsohn, Nancy J., Jego, Virginie, Parini, Rossella
Publicado 2017

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study

por Ficicioglu, Can, Matalon, Dena R., Luongo, Nicole, Menello, Caitlin, Kornafel, Tracy, Degnan, Andrew J.
Publicado 2020

A Pilot Study of Fluorodeoxyglucose Positron Emission Tomography Findings in Patients with Phenylketonuria before and during Sapropterin Supplementation

por Ficicioglu, Can, Dubroff, Jacob G, Thomas, Nina, Gallagher, Paul R, Burfield, Jessica, Hussa, Christie, Randall, Rebecca, Zhuang, Hongming
Publicado 2013

[(13)C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis

por Ficicioglu, Can, Demirbas, Didem, Derks, Britt, Pai, G. Shashidhar, Timson, David J., Rubio‐Gozalbo, Maria Estela, Berry, Gerard T.
Publicado 2021

Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy

por Cohen, Jennifer L., Burfield, Jessica, Valdez-Gonzalez, Karen, Samuels, Angela, Stefanatos, Arianna K., Yudkoff, Marc, Pedro, Helio, Ficicioglu, Can
Publicado 2019

Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement

por Degnan, Andrew J., Ho-Fung, Victor M., Ahrens-Nicklas, Rebecca C., Barrera, Christian A., Serai, Suraj D., Wang, Dah-Jyuu, Ficicioglu, Can
Publicado 2019

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

por Priestley, Jessica R. C., Alharbi, Hana, Callahan, Katharine Press, Guzman, Herodes, Payan-Walters, Irma, Smith, Ligia, Ficicioglu, Can, Ganetzky, Rebecca D., Ahrens-Nicklas, Rebecca C.
Publicado 2020

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via Newborn Screening: The benefits of early treatment with enzyme replacement therapy and imm...

por Li, Cindy, Desai, Ankit K., Gupta, Punita, Dempsey, Katherine, Bhambhani, Vikas, Hopkin, Robert J., Ficicioglu, Can, Tanpaiboon, Pranoot, Craigen, William J., Rosenberg, Amy S., Kishnani, Priya S.
Publicado 2021

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

por Kwon, Jennifer M., Matern, Dietrich, Kurtzberg, Joanne, Wrabetz, Lawrence, Gelb, Michael H., Wenger, David A., Ficicioglu, Can, Waldman, Amy T., Burton, Barbara K., Hopkins, Patrick V., Orsini, Joseph J.
Publicado 2018

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

por Chinsky, Jeffrey M, Singh, Rani, Ficicioglu, Can, van Karnebeek, Clara D M, Grompe, Markus, Mitchell, Grant, Waisbren, Susan E, Gucsavas-Calikoglu, Muge, Wasserstein, Melissa P, Coakley, Katie, Scott, C Ronald
Publicado 2017

Newborn Screening for Pompe Disease: Pennsylvania Experience

por 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
Publicado 2020

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

por Priestley, Jessica R. C., Adang, Laura A., Drewes Williams, Sarah, Lichter-Konecki, Uta, Menello, Caitlin, Engelhardt, Nicole M., DiPerna, James C., DiBoscio, Brenda, Ahrens-Nicklas, Rebecca C., Edmondson, Andrew C., Reynoso Santos, Francis Jeshira, Ficicioglu, Can
Publicado 2022

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

por Grünert, Sarah C, Stucki, Martin, Morscher, Raphael J, Suormala, Terttu, Bürer, Celine, Burda, Patricie, Christensen, Ernst, Ficicioglu, Can, Herwig, Jürgen, Kölker, Stefan, Möslinger, Dorothea, Pasquini, Elisabetta, Santer, René, Schwab, K Otfried, Wilcken, Bridget, Fowler, Brian, Yue, Wyatt W, Baumgartner, Matthias R
Publicado 2012