1. A new D‐galactose treatment monitoring index for PGM1‐CDG. Issue 5 (22nd June 2021) Authors: Perales‐Clemente, Ester; Liedtke, Kristen; Studinski, April; Radenkovic, Silvia; Gavrilov, Dimitar; Oglesbee, Devin; Matern, Dietrich; Rinaldo, Piero; Tortorelli, Silvia; Morava, Eva; Raymond, Kimiyo Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 5(2021) Page Start: 1263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Allelic spectrum of formiminotransferase‐cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. Issue 6 (11th September 2017) Authors: Majumdar, Ramanath; Yori, Andrew; Rush, Peggy W.; Raymond, Kimiyo; Gavrilov, Dimitar; Tortorelli, Silvia; Matern, Dietrich; Rinaldo, Piero; Feldman, Gerald L.; Oglesbee, Devin Journal: Molecular genetics & genomic medicine Issue: Volume 5:Issue 6(2017) Page Start: 795 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D‐2‐hydroxyglutaric aciduria. Issue 1 (20th November 2020) Authors: Perales‐Clemente, Ester; Hewitt, Angela L.; Studinski, April L.; Tillema, Jan‐Mendelt; Laxen, William J.; Oglesbee, Devin; Graff, Arne H.; Rinaldo, Piero; Lanpher, Brendan C. Journal: JIMD reports Issue: Volume 58:Issue 1(2021) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cold storage of porcine hepatocyte spheroids for spheroid bioartificial liver. (10th April 2019) Authors: Li, Yi; Chen, Harvey S.; Shaheen, Mohammed; Joo, Dong Jin; Amiot, Bruce P.; Rinaldo, Piero; Nyberg, Scott L. Journal: Xenotransplantation Issue: Volume 26:Number 4(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cold Storage of Rat Hepatocyte Spheroids. Issue 7 (July 2014) Authors: Liu, Hongling; Yu, Yue; Glorioso, Jaime; Mao, Shennen; Rodysil, Brian; Amiot, Bruce P.; Rinaldo, Piero; Nyberg, Scott L. Journal: Cell transplantation Issue: Volume 23:Issue 7(2014) Page Start: 819 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Continuous Age- and Sex-Adjusted Reference Intervals of Urinary Markers for Cerebral Creatine Deficiency Syndromes: A Novel Approach to the Definition of Reference Intervals. (6th January 2020) Authors: 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; van de Kamp, Jiddeke M; Salomons, Gajja S; Rinaldo, Piero Journal: Clinical chemistry Issue: Volume 61:Number 5(2015) Page Start: 760 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature. Issue 1 (12th October 2020) Authors: 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.;... Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 213 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency. Issue 1 (26th February 2020) Authors: Brown, Madalyn; Turgeon, Coleman; Rinaldo, Piero; Pop, Ana; Salomons, Gajja S.; Roullet, Jean‐Baptiste; Gibson, K. Michael Journal: JIMD reports Issue: Volume 53:Issue 1(2020) Page Start: 29 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Maternal serum lipidomics identifies lysophosphatidic acid as a predictor of small for gestational age neonates. (14th September 2021) Authors: Byeon, Seul Kee; Khanam, Rasheda; Rahman, Sayedur; Hasan, Tarik; Rizvi, Syed Jafar Raza; Madugundu, Anil K.; Ramarajan, Madan Gopal; Jung, Jae Hun; Chowdhury, Nabidul H.; Ahmed, Salahuddin; Raqib, Rubhana; Kim, Kwang Pyo; Piazza, Amy L.; Rinaldo, Piero; Pandey, Akhilesh; Baqui, Abdullah H.; AMANH... Journal: Molecular omics Issue: Volume 17:Number 6(2021) Page Start: 956 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease. Issue 5 (12th March 2015) Authors: Turgeon, Coleman T.; Orsini, Joseph J.; Sanders, Karen A.; Magera, Mark J.; Langan, Thomas J.; Escolar, Maria L.; Duffner, Patricia; Oglesbee, Devin; Gavrilov, Dimitar; Tortorelli, Silvia; Rinaldo, Piero; Raymond, Kimiyo; Matern, Dietrich Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 5(2015) Page Start: 923 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗