C
Can Ficicioglu
Researcher at University of Pennsylvania
Publications - 147
Citations - 4756
Can Ficicioglu is an academic researcher from University of Pennsylvania. The author has contributed to research in topics: Newborn screening & Medicine. The author has an hindex of 25, co-authored 119 publications receiving 3966 citations. Previous affiliations of Can Ficicioglu include Children's Hospital of Philadelphia & Harvard University.
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Journal ArticleDOI
Structural variation of chromosomes in autism spectrum disorder.
Christian R. Marshall,Abdul Noor,John B. Vincent,Anath C. Lionel,Lars Feuk,Jennifer Skaug,Mary Shago,Rainald Moessner,Dalila Pinto,Yan Ren,Bhooma Thiruvahindrapduram,Andreas Fiebig,Stefan Schreiber,Jan M. Friedman,Cees E.J. Ketelaars,Yvonne J. Vos,Can Ficicioglu,Susan J. Kirkpatrick,Rob Nicolson,Leon Sloman,Anne Summers,Clare A. Gibbons,Ahmad S. Teebi,David Chitayat,Rosanna Weksberg,Ann Thompson,Cathy Vardy,Vicki Crosbie,Sandra Luscombe,Rebecca Baatjes,Lonnie Zwaigenbaum,Wendy Roberts,Bridget A. Fernandez,Peter Szatmari,Stephen W. Scherer +34 more
TL;DR: The results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility.
Journal ArticleDOI
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
Laura C. Tegtmeyer,Stephan Rust,Monique van Scherpenzeel,Bobby G. Ng,Marie-Estelle Losfeld,Sharita Timal,Kimiyo Raymond,Ping He,Mie Ichikawa,Joris A. Veltman,Karin Huijben,Yoon S. Shin,Vandana Sharma,Maciej Adamowicz,Martin Lammens,Janine Reunert,Anika Witten,Esther Schrapers,Gert Matthijs,Jaak Jaeken,Daisy Rymen,Tanya Stojkovic,Pascal Laforêt,François Petit,Olivier Aumaître,Elżbieta Czarnowska,Monique Piraud,Teodor Podskarbi,Charles A. Stanley,Reuben Matalon,Patricie Burda,Soraya Seyyedi,V. Debus,Piotr Socha,Jolanta Sykut-Cegielska,Francjan J. van Spronsen,Linda De Meirleir,Pietro Vajro,Terry J. DeClue,Can Ficicioglu,Yoshinao Wada,Ron A. Wevers,Dieter Vanderschaeghe,Nico Callewaert,Ralph Fingerhut,Emile Van Schaftingen,Hudson H. Freeze,Eva Morava,Dirk Lefeber,Thorsten Marquardt +49 more
TL;DR: In this paper, the authors evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogono-morphosis, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest.
Journal ArticleDOI
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
Barbara K. Burton,Manisha Balwani,François Feillet,Ivo Barić,T. Andrew Burrow,Carmen Camarena Grande,Mahmut Çoker,Alejandra Consuelo-Sanchez,Patrick Deegan,Maja Di Rocco,Gregory M. Enns,Richard W. Erbe,Fatih Süheyl Ezgü,Can Ficicioglu,Katryn N. Furuya,John P. Kane,Christina M. Laukaitis,Eugen Mengel,Edward G. Neilan,Scott Nightingale,Heidi Peters,Maurizio Scarpa,K Otfried Schwab,Vratislav Smolka,Vassili Valayannopoulos,Marnie Wood,Zachary Goodman,Yijun Yang,Stephen Eckert,Sandra Rojas-Caro,Anthony G. Quinn +30 more
TL;DR: Sbelipase alfa therapy resulted in a reduction in multiple disease-related hepatic and lipid abnormalities in children and adults with lysosomal acid lipase deficiency and observed improvements in lipid levels and reduction in hepatic fat content.
Journal ArticleDOI
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
David Dimmock,Qing Zhang,Carlo Dionisi-Vici,Rosalba Carrozzo,Joseph T. Shieh,Lin-Ya Tang,Cavatina K. Truong,Eric S. Schmitt,Mara Sifry-Platt,Simona Lucioli,Filippo M. Santorelli,Can Ficicioglu,M. Rodriguez,Klaas J. Wierenga,Gregory M. Enns,Nicola Longo,Mark H. Lipson,Hilary Vallance,William J. Craigen,Fernando Scaglia,L.-J. Wong +20 more
TL;DR: The presentation of one case with apparent viral hepatitis, without neurological disease, suggests that this disease should be considered in patients with infantile liver failure regardless of the presence of neurological features or apparent infectious etiology.
Journal ArticleDOI
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
Georgianne L. Arnold,Johan L.K. Van Hove,Debra Freedenberg,Arnold W. Strauss,Nicola Longo,Barbara K. Burton,Cheryl Garganta,Can Ficicioglu,Stephen D. Cederbaum,Cary O. Harding,Richard G. Boles,Dietrich Matern,Pranesh Chakraborty,Annette Feigenbaum +13 more
TL;DR: This consensus protocol is intended to assist clinicians in the diagnosis and management of screen-positive newborns for VLCAD deficiency until evidence-based guidelines are available.