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Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 842, doi. 10.1002/ajmg.a.63076
By:
- Rosati, Justin;
- Johnson, Jessica;
- Stander, Zinandre;
- White, Amy;
- Tortorelli, Silvia;
- Bailey, Diana;
- Fong, Chin‐To;
- Lee, Bo Hoon
Publication type:
Article
Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 213, doi. 10.1002/ajmg.a.61914
By:
- Poskanzer, Sheri A.;
- Schultz, Matthew J.;
- Turgeon, Coleman T.;
- Vidal‐Folch, Noemi;
- Liedtke, Kris;
- Oglesbee, Devin;
- Gavrilov, Dimitar K.;
- Tortorelli, Silvia;
- Matern, Dietrich;
- Rinaldo, Piero;
- Bennett, James T.;
- Thies, Jenny M.;
- Chang, Irene J.;
- Beck, Anita E.;
- Raymond, Kimiyo;
- Allenspach, Eric J.;
- Lam, Christina
Publication type:
Article
367 Designing an Untargeted Metabolomics Assay to Detect Biomarkers for Inborn Errors of Metabolism in the Clinical Laboratory.
Published in:
2023
By:
- Wurth, Rachel;
- Turgeon, Coleman;
- ZinandrÃ©Stander;
- Gavrilov, Dimitar;
- Hall, Patricia;
- Matern, Dietrich;
- Schultz, Matthew;
- Tortorelli, Silvia;
- Oglesbee, Devin
Publication type:
Abstract
Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.
Published in:
International Journal of Dermatology, 2013, v. 52, n. 12, p. 1464, doi. 10.1111/ijd.12305
By:
- Horner, Mary E.;
- Alikhan, Ali;
- Tintle, Suzanne;
- Tortorelli, Silvia;
- Davis, Dawn Marie R.;
- Hand, Jennifer L.
Publication type:
Article
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 67, doi. 10.1002/jmd2.12217
By:
- Guenzel, Adam J.;
- Hall, Patricia L.;
- Scott, Anna I.;
- Lam, Christina;
- Chang, Irene J.;
- Thies, Jenny;
- Ferreira, Carlos R.;
- Pichurin, Pavel;
- Laxen, William;
- Raymond, Kimiyo;
- Gavrilov, Dimitar K.;
- Oglesbee, Devin;
- Rinaldo, Piero;
- Matern, Dietrich;
- Tortorelli, Silvia
Publication type:
Article
Neuropsychological disorders related to interictal epileptic discharges during sleep in benign epilepsy of childhood with centrotemporal or Rolandic spikes.
Published in:
2001
By:
- Baglietto, Maria Giuseppina;
- Battaglia, Francesca Maria;
- Nobili, Lino;
- Tortorelli, Silvia;
- Negri, Emanuela De;
- Calevo, Maria Grazia;
- Veneselli, Edvige;
- Baglietto, M G;
- Battaglia, F M;
- Nobili, L;
- Tortorelli, S;
- De Negri, E;
- Calevo, M G;
- Veneselli, E;
- De Negri, M
Publication type:
journal article
Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.
Published in:
Clinical Chemistry, 2018, v. 64, n. 12, p. 1753, doi. 10.1373/clinchem.2018.293712
By:
- Vidal-Folch, Noemi;
- Gavrilov, Dimitar;
- Raymond, Kimiyo;
- Rinaldo, Piero;
- Tortorelli, Silvia;
- Matern, Dietrich;
- Oglesbee, Devin
Publication type:
Article
Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.
Published in:
Clinical Chemistry, 2016, v. 62, n. 9, p. 1248, doi. 10.1373/clinchem.2016.256255
By:
- Tortorelli, Silvia;
- Turgeon, Coleman T.;
- Gavrilov, Dimitar K.;
- Oglesbee, Devin;
- Raymond, Kimiyo M.;
- Rinaldo, Piero;
- Matern, Dietrich
Publication type:
Article
Continuous Age- and Sex-Adjusted Reference Intervals of Urinary Markers for Cerebral Creatine Deficiency Syndromes: A Novel Approach to the Definition of Reference Intervals.
Published in:
Clinical Chemistry, 2015, v. 61, n. 5, p. 760, doi. 10.1373/clinchem.2014.235564
By:
- Mørkrid, Lars;
- Rowe, Alexander D.;
- Elgstoen, Katja B. P.;
- Olesen, Jess H.;
- Ruijter, George;
- Hall, Patricia L.;
- Tortorelli, Silvia;
- Schulze, Andreas;
- Kyriakopoulou, Lianna;
- Wamelink, Mirjam M. C.;
- M. van de Kamp, Jiddeke;
- Salomons, Gajja S.;
- Rinaldo, Piero
Publication type:
Article
High-Throughput Immunoassay for the Biochemical Diagnosis of Friedreich Ataxia in Dried Blood Spots and Whole Blood.
Published in:
Clinical Chemistry, 2013, v. 59, n. 10, p. 1461, doi. 10.1373/clinchem.2013.207472
By:
- Oglesbee, Devin;
- Kroll, Charles;
- Gakh, Oleksandr;
- Deutsch, Eric C.;
- Lynch, David R.;
- Gavrilova, Ralitza;
- Tortorelli, Silvia;
- Raymond, Kimiyo;
- Gavrilov, Dimitar;
- Rinaldo, Piero;
- Matern, Dietrich;
- Isaya, Grazia
Publication type:
Article
Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry.
Published in:
Clinical Chemistry, 2010, v. 56, n. 11, p. 1686, doi. 10.1373/clinchem.2010.148957
By:
- Turgeon, Coleman T.;
- Magera, Mark J.;
- Cuthbert, Carla D.;
- Loken, Perry R.;
- Gavrilov, Dimitar K.;
- Tortorelli, Silvia;
- Raymond, Kimiyo M.;
- Oglesbee, Devin;
- Rinaldo, Piero;
- Matern, Dietrich
Publication type:
Article
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1159, doi. 10.1002/jimd.12682
By:
- Wegwerth, Peter J.;
- White, Amy L.;
- Stoway, Stephanie D.;
- Loken, Perry R.;
- Oglesbee, Devin;
- Matern, Dietrich;
- Tortorelli, Silvia;
- Raymond, Kimiyo M.;
- Braverman, Nancy E.;
- Gavrilov, Dimitar K.
Publication type:
Article
A new D‐galactose treatment monitoring index for PGM1‐CDG.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1263, doi. 10.1002/jimd.12406
By:
- Perales‐Clemente, Ester;
- Liedtke, Kristen;
- Studinski, April;
- Radenkovic, Silvia;
- Gavrilov, Dimitar;
- Oglesbee, Devin;
- Matern, Dietrich;
- Rinaldo, Piero;
- Tortorelli, Silvia;
- Morava, Eva;
- Raymond, Kimiyo
Publication type:
Article
Measurement of psychosine in dried blood spots - a possible improvement to newborn screening programs for Krabbe disease.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 923, doi. 10.1007/s10545-015-9822-z
By:
- Turgeon, Coleman;
- Orsini, Joseph;
- Sanders, Karen;
- Magera, Mark;
- Langan, Thomas;
- Escolar, Maria;
- Duffner, Patricia;
- Oglesbee, Devin;
- Gavrilov, Dimitar;
- Tortorelli, Silvia;
- Rinaldo, Piero;
- Raymond, Kimiyo;
- Matern, Dietrich
Publication type:
Article
An adult onset case of alpha‐methyl‐acyl‐CoA racemase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 349, doi. 10.1007/s10545-010-9183-6
By:
- Smith, Emily Helen;
- Gavrilov, Dimitar K.;
- Oglesbee, Devin;
- Freeman, William D.;
- Vavra, Michael W.;
- Matern, Dietrich;
- Tortorelli, Silvia
Publication type:
Article
Cerebrospinal fluid 2-hydroxyglutarate as a monitoring biomarker for IDH-mutant gliomas.
Published in:
Neuro-Oncology Advances, 2023, v. 5, n. 1, p. 1, doi. 10.1093/noajnl/vdad061
By:
- Riviere-Cazaux, Cecile;
- Lacey, Jean M;
- Carlstrom, Lucas P;
- Laxen, William J;
- Munoz-Casabella, Amanda;
- Hoplin, Matthew D;
- Ikram, Samar;
- Zubair, Abdullah Bin;
- Andersen, Katherine M;
- Warrington, Arthur E;
- Decker, Paul A;
- Kaufmann, Timothy J;
- Campian, Jian L;
- Eckel-Passow, Jeanette E;
- Kizilbash, Sani H;
- Tortorelli, Silvia;
- Burns, Terry C
Publication type:
Article
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 795, doi. 10.1002/mgg3.333
By:
- Majumdar, Ramanath;
- Yori, Andrew;
- Rush, Peggy W.;
- Raymond, Kimiyo;
- Gavrilov, Dimitar;
- Tortorelli, Silvia;
- Matern, Dietrich;
- Rinaldo, Piero;
- Feldman, Gerald L.;
- Oglesbee, Devin
Publication type:
Article
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.
Published in:
Human Mutation, 2016, v. 37, n. 10, p. 1097, doi. 10.1002/humu.23047
By:
- Blackburn, Patrick R.;
- Hickey, Raymond D.;
- Nace, Rebecca A.;
- Giama, Nasra H.;
- Kraft, Daniel L.;
- Bordner, Andrew J.;
- Chaiteerakij, Roongruedee;
- McCormick, Jennifer B.;
- Radulovic, Maja;
- Graham, Rondell P.;
- Torbenson, Michael S.;
- Tortorelli, Silvia;
- Scott, C. Ronald;
- Lindor, Noralane M.;
- Milliner, Dawn S.;
- Oglesbee, Devin;
- Al‐Qabandi, Wafa'a;
- Grompe, Markus;
- Gavrilov, Dimitar K.;
- El‐Youssef, Mounif
Publication type:
Article
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.
Published in:
Glycobiology, 2005, v. 15, n. 12, p. 1268, doi. 10.1093/glycob/cwj021
By:
- Luisa Sturiale;
- Rita Barone;
- Agata Fiumara;
- Marta Perez;
- Marco Zaffanello;
- Giovanni Sorge;
- Lorenzo Pavone;
- Silvia Tortorelli;
- John F. O’Brien;
- Jaak Jaeken;
- Domenico Garozzo
Publication type:
Article

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