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Author/Creator Gavrilov, Dimitar

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
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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
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Available online (eLD content is only available in our Reading Rooms) ↗

3. 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
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4. Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease. (August 2018)

Authors:
Tortorelli, Silvia; Eckerman, Jason; Orsini, Joseph; Stevens, Colleen; Hart, Jeremy; Hall, Patricia; Alexander, John; Gavrilov, Dimitar; Oglesbee, Devin; Raymond, Kimiyo; Matern, Dietrich; Rinaldo, Piero
Journal:
Genetics in medicine
Issue:
Volume 20:Number 8(2018)
Page Start:
840
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Precision newborn screening for lysosomal disorders. (August 2018)

Authors:
Minter Baerg, Melissa; Stoway, Stephanie; Hart, Jeremy; Mott, Lea; Peck, Dawn; Nett, Stephanie; Eckerman, Jason; Lacey, Jean; Turgeon, Coleman; Gavrilov, Dimitar; Oglesbee, Devin; Raymond, Kimiyo; Tortorelli, Silvia; Matern, Dietrich; Mørkrid, Lars; Rinaldo, Piero
Journal:
Genetics in medicine
Issue:
Volume 20:Number 8(2018)
Page Start:
847
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗