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Molecular Genetics and Metabolism|January 23, 2009
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiencyGeorgianne L Arnold, Johan Van Hove, Debra Freedenberg, et al.
Journal of Inherited Metabolic Disease|March 13, 2015
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe diseaseColeman T Turgeon, Joseph J Orsini, Karen A Sanders, et al.
The Journal of Clinical Endocrinology and Metabolism|August 5, 2004
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasiaCarla Z Minutti, Jean M Lacey, Mark J Magera, et al.
Molecular Genetics and Metabolism|November 23, 2019
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduriaGisele Pino, Erin Conboy, Silvia Tortorelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiencyDevin Oglesbee, Miao He, Nilanjana Majumder, et al.
Journal of Cutaneous Pathology|August 5, 2025
Demographics of U.S. Dermatopathology Fellowship Applicant Interviewees: A Single Institution Descriptive AnalysisPeter Chow, Lauren F Rinehart, Emily H Smith, et al.
Molecular Genetics and Metabolism|December 25, 2007
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiencyGeorgianne L Arnold, Dwight D Koeberl, Dietrich Matern, et al.
Human Molecular Genetics|January 8, 2011
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13Minal Çalışkan, Jessica X Chong, Lawrence Uricchio, et al.
Molecular Genetics and Metabolism|December 7, 2007
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish originIngrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.
JIMD Reports|July 14, 2021
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnosesAdam J Guenzel, Patricia L Hall, Anna I Scott, et al.
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