Genetics in Medicine Open (Jan 2023)
O03: Exploiting narrow therapeutic windows: Utility of the urine purines and pyrimidines test for molybdenum cofactor deficiency A patients*
- Dayebgadoh Gerald,
- Silvia Tortorelli,
- Amy White,
- Dawn Peck,
- Gisele Pino,
- April Studinski,
- Jason Eckerman,
- Bimal Chaudhari,
- Betsy Schmalz,
- Lance Rodan,
- Angela Sun,
- Emily Shelkowitz,
- Matthew Schultz,
- Devin Oglesbee,
- Dimitar Gavrilov,
- Patricia Hall,
- Dietrich Matern,
- Silvia Tortorelli
Affiliations
- Dayebgadoh Gerald
- Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN
- Silvia Tortorelli
- Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN
- Amy White
- Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN
- Dawn Peck
- Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN
- Gisele Pino
- Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN
- April Studinski
- Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN
- Jason Eckerman
- Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN
- Bimal Chaudhari
- Divisions of Genetics & Genomic Medicine and Neonatology, Nationwide Children’s Hospital, Columbus, OH
- Betsy Schmalz
- Divisions of Genetics & Genomic Medicine and Neonatology, Nationwide Children’s Hospital, Columbus, OH
- Lance Rodan
- Division of Genetics & Genomics, Department of Pediatrics and Department of Neurology, Boston Children Hospital, Boston, MA
- Angela Sun
- Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA
- Emily Shelkowitz
- Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA
- Matthew Schultz
- Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN
- Devin Oglesbee
- Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN
- Dimitar Gavrilov
- Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN
- Patricia Hall
- Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN
- Dietrich Matern
- Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN
- Silvia Tortorelli
- Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN
- Journal volume & issue
-
Vol. 1,
no. 1
p. 100004
