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Liver Pathology in Infantile Mitochondrial DNA Depletion Syndrome.
Published in:
Pediatric & Developmental Pathology, 2013, v. 16, n. 6, p. 415, doi. 10.2350/12-07-1229-OA.1
By:
- HAZARD, FLORETTE K.;
- FICICIOGLU, CAN H.;
- GANESH, JAYA;
- RUCHELLI, EDUARDO D.
Publication type:
Article
Effect of galactose free formula on galactose-1-phosphate in two infants with classical galactosemia.
Published in:
2008
By:
- Ficicioglu, Can;
- Hussa, Christie;
- Yager, Claire;
- Segal, Stanton
Publication type:
journal article
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.
Published in:
2005
By:
- Hoffman, Trevor;
- Simon, Erin;
- Ficicioglu, Can;
- Hoffman, Trevor L;
- Simon, Erin M
Publication type:
journal article
Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.
Published in:
Journal of Child Neurology, 2020, v. 35, n. 2, p. 137, doi. 10.1177/0883073819881940
By:
- Shelkowitz, Emily;
- Ficicioglu, Can;
- Stence, Nicholas;
- Van Hove, Johan;
- Larson, Austin
Publication type:
Article
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0321-y
By:
- Yin-Hsiu Chien;
- Abdenur, Jose E.;
- Baronio, Federico;
- Bannick, Allison Anne;
- Corrales, Fernando;
- Couce, Maria;
- Donner, Markus G.;
- Ficicioglu, Can;
- Freehauf, Cynthia;
- Frithiof, Deborah;
- Gotway, Garrett;
- Koichi Hirabayashi;
- Hofstede, Floris;
- Hoganson, George;
- Wuh-Liang Hwu;
- James, Philip;
- Sook Kim;
- Korman, Stanley H.;
- Lachmann, Robin;
- Levy, Harvey
Publication type:
Article
Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 99, doi. 10.1186/s13023-015-0321-y
By:
- Yin-Hsiu Chien;
- Abdenur, Jose E.;
- Baronio, Federico;
- Bannick, Allison Anne;
- Corrales, Fernando;
- Couce, Maria;
- Donner, Markus G.;
- Ficicioglu, Can;
- Freehauf, Cynthia;
- Frithiof, Deborah;
- Gotway, Garrett;
- Hirabayashi, Koichi;
- Hofstede, Floris;
- Hoganson, George;
- Wuh-Liang Hwu;
- James, Philip;
- Sook Kim;
- Korman, Stanley H.;
- Lachmann, Robin;
- Levy, Harvey
Publication type:
Article
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Published in:
2015
By:
- Chien, Yin-Hsiu;
- Abdenur, Jose E;
- Baronio, Federico;
- Bannick, Allison Anne;
- Corrales, Fernando;
- Couce, Maria;
- Donner, Markus G;
- Ficicioglu, Can;
- Freehauf, Cynthia;
- Frithiof, Deborah;
- Gotway, Garrett;
- Hirabayashi, Koichi;
- Hofstede, Floris;
- Hoganson, George;
- Hwu, Wuh-Liang;
- James, Philip;
- Kim, Sook;
- Korman, Stanley H;
- Lachmann, Robin;
- Levy, Harvey
Publication type:
journal article
3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 31, doi. 10.1186/1750-1172-7-31
By:
- 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
Publication type:
Article
Reduced immune response to hepatitis B vaccine in children with insulin dependent diabetes.
Published in:
Pediatrics International, 1995, v. 37, n. 6, p. 687, doi. 10.1111/j.1442-200X.1995.tb03404.x
By:
- FIÇICIOǦLU, CAN;
- MIKLA, SHARARE;
- MIDILLI, KENAN;
- AYDIN, AHMET;
- ÇAM, HALIT;
- ERǦIN, SEVGI
Publication type:
Article
Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement.
Published in:
Insights into Imaging, 2019, v. 10, n. 1, p. 1, doi. 10.1186/s13244-019-0743-5
By:
- Degnan, Andrew J.;
- Ho-Fung, Victor M.;
- Ahrens-Nicklas, Rebecca C.;
- Barrera, Christian A.;
- Serai, Suraj D.;
- Wang, Dah-Jyuu;
- Ficicioglu, Can
Publication type:
Article
Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement.
Published in:
Insights into Imaging, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13244-019-0743-5
By:
- Degnan, Andrew J.;
- Ho-Fung, Victor M.;
- Ahrens-Nicklas, Rebecca C.;
- Barrera, Christian A.;
- Serai, Suraj D.;
- Wang, Dah-Jyuu;
- Ficicioglu, Can
Publication type:
Article
Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement.
Published in:
Insights into Imaging, 2019, v. 10, n. 1, p. 1, doi. 10.1186/s13244-019-0743-5
By:
- Degnan, Andrew J.;
- Ho-Fung, Victor M.;
- Ahrens-Nicklas, Rebecca C.;
- Barrera, Christian A.;
- Serai, Suraj D.;
- Wang, Dah-Jyuu;
- Ficicioglu, Can
Publication type:
Article
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 301, doi. 10.1002/ajmg.a.38551
By:
- Ficicioglu, Can;
- Giugliani, Roberto;
- Harmatz, Paul;
- Mendelsohn, Nancy J.;
- Jego, Virginie;
- Parini, Rossella
Publication type:
Article
Severe Metabolic Acidosis in a Newborn With an Abnormal Newborn Screen.
Published in:
2012
By:
- Schrier, Samantha A.;
- Ficicioglu, Can
Publication type:
Case Study
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>.
Published in:
Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01271-1
By:
- Oussalah, Abderrahim;
- Siblini, Youssef;
- Hergalant, Sébastien;
- Chéry, Céline;
- Rouyer, Pierre;
- Cavicchi, Catia;
- Guerrini, Renzo;
- Morange, Pierre-Emmanuel;
- Trégouët, David;
- Pupavac, Mihaela;
- Watkins, David;
- Pastinen, Tomi;
- Chung, Wendy K.;
- Ficicioglu, Can;
- Feillet, François;
- Froese, D. Sean;
- Baumgartner, Matthias R.;
- Benoist, Jean-François;
- Majewski, Jacek;
- Morrone, Amelia
Publication type:
Article
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
Published in:
Metabolic Brain Disease, 2018, v. 33, n. 3, p. 875, doi. 10.1007/s11011-018-0197-3
By:
- Bruun, Theodora U. J.;
- Sidky, Sarah;
- Bandeira, Anabela O.;
- Debray, Francoise-Guillaume;
- Ficicioglu, Can;
- Goldstein, Jennifer;
- Joost, Kairit;
- Koeberl, Dwight D.;
- Luísa, Diogo;
- Nassogne, Marie-Cecile;
- O’Sullivan, Siobhan;
- Õunap, Katrin;
- Schulze, Andreas;
- van Maldergem, Lionel;
- Salomons, Gajja S.;
- Mercimek-Andrews, Saadet
Publication type:
Article
Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy.
Published in:
2019
By:
- Cohen, Jennifer L.;
- Burfield, Jessica;
- Valdez-Gonzalez, Karen;
- Samuels, Angela;
- Stefanatos, Arianna K.;
- Yudkoff, Marc;
- Pedro, Helio;
- Ficicioglu, Can
Publication type:
journal article
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Published in:
2018
By:
- 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.
Publication type:
journal article
[<sup>13</sup>C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 104, doi. 10.1002/jmd2.12205
By:
- Ficicioglu, Can;
- Demirbas, Didem;
- Derks, Britt;
- Pai, G. Shashidhar;
- Timson, David J.;
- Rubio‐Gozalbo, Maria Estela;
- Berry, Gerard T.
Publication type:
Article
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
Published in:
2020
By:
- Farmer, Cristan A.;
- Kaat, Aaron J.;
- Thurm, Audrey;
- Anselm, Irina;
- Akshoomoff, Natacha;
- Bennett, Amanda;
- Berry, Leandra;
- Bruchey, Aleksandra;
- Barshop, Bruce A.;
- Berry-Kravis, Elizabeth;
- Bianconi, Simona;
- Cecil, Kim M.;
- Davis, Robert J.;
- Ficicioglu, Can;
- Porter, Forbes D.;
- Wainer, Allison;
- Goin-Kochel, Robin P.;
- Leonczyk, Caroline;
- Guthrie, Whitney;
- Koeberl, Dwight
Publication type:
journal article
Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry.
Published in:
Clinical Chemistry, 2019, v. 65, n. 5, p. 653, doi. 10.1373/clinchem.2018.296780
By:
- Jie Chen;
- Xueli Li;
- Edmondson, Andrew;
- Meyers, Gail Ditewig;
- Izumi, Kosuke;
- Ackermann, Amanda M.;
- Morava, Eva;
- Ficicioglu, Can;
- Bennett, Michael J.;
- Miao He
Publication type:
Article
Monitoring of Biochemical Status in Children with Duarte Galactosemia: Utility of Galactose, Galactitol, Galactonate, and Galactose 1-Phosphate.
Published in:
Clinical Chemistry, 2010, v. 56, n. 7, p. 1177, doi. 10.1373/clinchem.2010.144097
By:
- Ficicioglu, Can;
- Hussa, Christie;
- Gallagher, Paul R.;
- Thomas, Nina;
- Yager, Claire
Publication type:
Article
Newborn Screening for Galactosemia: A Review of 5 Years of Data and Audit of a Revised Reporting Approach.
Published in:
Clinical Chemistry, 2010, v. 56, n. 3, p. 437, doi. 10.1373/clinchem.2009.135947
By:
- Freer, Dennis E.;
- Ficicioglu, Can;
- Finegold, David
Publication type:
Article
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 11, p. 1715, doi. 10.1002/acn3.51668
By:
- Scharre, Svenja;
- Posset, Roland;
- Garbade, Sven F.;
- Gleich, Florian;
- Seidl, Marie J.;
- Druck, Ann‐Catrin;
- Okun, Jürgen G.;
- Gropman, Andrea L.;
- Nagamani, Sandesh C. S.;
- Hoffmann, Georg F.;
- Kölker, Stefan;
- Zielonka, Matthias;
- Ah Mew, Nicholas;
- Baumgartner, Matthias R.;
- Berry, Gerard T.;
- Berry, Susan A.;
- Burrage, Lindsay;
- Diaz, George A.;
- Ficicioglu, Can;
- Kisin, Genya
Publication type:
Article
Screening for medium-chain acyl CoA dehydrogenase defficiency: current perspectives.
Published in:
Research & Reports in Neonatology, 2016, v. 6, p. 1, doi. 10.2147/RRN.S60617
By:
- Soler-Alfonso, Claudia;
- Bennett, Michael J.;
- Ficicioglu, Can
Publication type:
Article
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study.
Published in:
2020
By:
- Ficicioglu, Can;
- Matalon, Dena R.;
- Luongo, Nicole;
- Menello, Caitlin;
- Kornafel, Tracy;
- Degnan, Andrew J.
Publication type:
journal article
Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency.
Published in:
2020
By:
- Pritchard, Amanda Barone;
- Strong, Alanna;
- Ficicioglu, Can
Publication type:
journal article
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 636, doi. 10.1002/jimd.12724
By:
- Feillet, François;
- Ficicioglu, Can;
- Lagler, Florian B.;
- Longo, Nicola;
- Muntau, Ania C.;
- Burlina, Alberto;
- Trefz, Friedrich K.;
- van Spronsen, Francjan J.;
- Arnoux, Jean‐Baptiste;
- Lindstrom, Kristin;
- Lilienstein, Joshua;
- Clague, Gillian E.;
- Rowell, Richard;
- Burton, Barbara K.
Publication type:
Article
A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1106, doi. 10.1002/jimd.12556
By:
- Katler, Quinton S.;
- Stepien, Karolina M.;
- Paull, Nathan;
- Patel, Sneh;
- Adams, Michael;
- Balci, Mehmet Cihan;
- Berry, Gerard T.;
- Bosch, Annet M.;
- DeLaO, Angela;
- Demirbas, Didem;
- Edman, Julianna;
- Ficicioglu, Can;
- Goff, Melanie;
- Hacker, Stephanie;
- Knerr, Ina;
- Lancaster, Kristen;
- Li, Hong;
- Mendelsohn, Bryce A.;
- Nichols, Brandi;
- de Rezende Pinto, Wladimir Bocca Vieira
Publication type:
Article
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 424, doi. 10.1002/jimd.12085
By:
- Van Hove, Johan L. K.;
- Freehauf, Cynthia L.;
- Ficicioglu, Can;
- Pena, Loren D. M.;
- Moreau, Kerrie L.;
- Henthorn, Thomas K.;
- Christians, Uwe;
- Jiang, Hua;
- Cowan, Tina M.;
- Young, Sarah P.;
- Hite, Michelle;
- Friederich, Marisa W.;
- Stabler, Sally P.;
- Spector, Elaine B.;
- Kronquist, Kathryn E.;
- Thomas, Janet A.;
- Emmett, Peggy;
- Harrington, Mary J.;
- Pyle, Laura;
- Creadon‐Swindell, Geralyn
Publication type:
Article
Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 140, doi. 10.1002/jimd.12035
By:
- Ahrens‐Nicklas, Rebecca C.;
- Ganetzky, Rebecca D.;
- Rush, Peggy W.;
- Conway, Robert L.;
- Ficicioglu, Can
Publication type:
Article
Genotype–phenotype correlations: sudden death in an infant with very‐long‐chain acyl‐CoA dehydrogenase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 129, doi. 10.1007/s10545-009-9041-6
By:
- Coughlin, II, Curtis R.;
- Ficicioglu, Can
Publication type:
Article
Lessons Learned From the Long-Term Use of Enzyme Replacement Therapy in the Treatment of Lysosomal Acid Lipase Deficiency.
Published in:
2022
By:
- Strong, Alanna;
- Ficicioglu, Can
Publication type:
journal article
Addition of MPS-II to the Recommended Uniform Screening Panel in the United States.
Published in:
2022
By:
- Millington, David S.;
- Ficicioglu, Can
Publication type:
Editorial
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.
Published in:
International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 24, doi. 10.3390/ijns8020024
By:
- 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
Publication type:
Article
The Editor's Choice for Issue 2, Volume 7.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030061
By:
- Ficicioglu, Can
Publication type:
Article
Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030038
By:
- Gold, Jessica I.;
- Campbell, Ian M.;
- Ficicioglu, Can
Publication type:
Article
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8813121
By:
- Pajusalu, Sander;
- Vals, Mari-Anne;
- Serrano, Mercedes;
- Witters, Peter;
- Cechova, Anna;
- Honzik, Tomáš;
- Edmondson, Andrew C.;
- Ficicioglu, Can;
- Barone, Rita;
- De Lonlay, Pascale;
- Bérat, Claire-Marine;
- Vuillaumier-Barrot, Sandrine;
- Lam, Christina;
- Patterson, Marc C.;
- Janssen, Mirian C. H.;
- Martins, Esmeralda;
- Quelhas, Dulce;
- Sykut-Cegielska, Jolanta;
- Mousa, Jehan;
- Urreizti, Roser
Publication type:
Article

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