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Molecular Genetics and Metabolism|October 18, 2011
Acute management of propionic acidemiaKimberly A Chapman, Andrea Gropman, Erin MacLeod, et al.
International Journal of Neonatal Screening|April 24, 2026
COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-IZinandré Stander, Amy L White, Matthew Lynch, et al.
The Journal of Pediatrics|April 17, 2010
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometrySilvia Tortorelli, Coleman T Turgeon, James S Lim, et al.
American Journal of Human Genetics|October 16, 2004
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screeningRegina Ensenauer, Jerry Vockley, Jan-Marie Willard, et al.
Molecular Genetics and Metabolism|October 4, 2011
Chronic management and health supervision of individuals with propionic acidemiaV Reid Sutton, Kimberly A Chapman, Andrea L Gropman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2025
Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe diseaseIbrahim T Khoja, Dawn S Peck, Dimitar K Gavrilov, et al.
Familial Cancer|November 27, 2022
A retrospective cohort study of genetic referral and diagnosis of Lynch syndrome in patients with cutaneous sebaceous lesionsMeera Kattapuram, Christina Shabet, Sarah Austin, et al.
Molecular Genetics and Metabolism|October 12, 2011
Natural history of propionic acidemiaLoren Pena, Jill Franks, Kimberly A Chapman, et al.
Molecular Genetics and Metabolism|November 15, 2011
Neurologic considerations in propionic acidemiaJohn Schreiber, Kimberly A Chapman, Marshall L Summar, et al.
Clinical Chemistry|April 22, 2023
εγ-Thalassemia, a New Hemoglobinopathy CategoryJennifer L Oliveira, Christineil H Thompson, Siva Arumugam Saravanaperumal, et al.
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