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Journal of Inherited Metabolic Disease|September 26, 2025
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic ApproachesMatthew J Schultz, Patricia L Hall, Gisele Bentz Pino, et al.
Molecular Genetics and Metabolism|August 31, 2024
Sensitivity of transferrin isoform analysis for PMM2-CDGPatrica L Hall, Kris Liedke, Coleman Turgeon, et al.
Molecular Genetics and Metabolism|April 9, 2021
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe DiseaseRobert Thompson-Stone, Margie A Ream, Michael Gelb, et al.
Journal of Cutaneous Pathology|August 29, 2024
A case of NONO::TFE3 cutaneous epithelioid and spindle cell tumor with local recurrence after complete excisionJoseph S Durgin, Emily H Smith, Paul W Harms, et al.
The Journal of Clinical Psychiatry|April 9, 2005
Mirtazapine for obsessive-compulsive disorder: an open trial followed by double-blind discontinuationLorrin M Koran, Nona N Gamel, Helen W Choung, et al.
Pediatrics|July 3, 2003
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometryDietrich Matern, Miao He, Susan A Berry, et al.
Molecular Genetics and Metabolism Reports|July 18, 2024
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliaseColeman Turgeon, Kari Casas, Ryan Flanagan, et al.
Molecular Genetics and Metabolism|November 1, 2025
Clinical utility of untargeted urine oligosaccharide screeningGisele Bentz Pino, Marie A Quade, Matthew J Schultz, et al.
The American Journal of Dermatopathology|October 22, 2015
Dermatofibrosarcoma Protuberans in a Patient With Cowden Syndrome: Revisiting the PTEN and PDGF PathwaysEmily H Smith, Thanh T H Lan, Vickie Y Jo, et al.
Pediatrics|October 3, 2007
Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycineLynne A Wolfe, David N Finegold, Jerry Vockley, et al.
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