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Molecular Genetics and Metabolism|October 31, 2020
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemiaOlivia Wenger, Miraides Brown, Brandon Smith, et al.
Molecular Genetics and Metabolism|December 8, 2014
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophyColeman T Turgeon, Ann B Moser, Lars Mørkrid, et al.
Molecular Genetics and Metabolism|March 26, 2024
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrationsKaren Sanders, Dawn Peck, Gisele Bentz Pino, et al.
Clinical Chemistry|July 11, 2013
High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole bloodDevin Oglesbee, Charles Kroll, Oleksandr Gakh, et al.
Molecular Genetics and Metabolism Reports|June 15, 2026
Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyriaChenqing Wang, Narmene Bensaber, Lina Rebeiz, et al.
Molecular Genetics and Metabolism|August 9, 2011
Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influxKevin A Strauss, Joan Brumbaugh, Alana Duffy, et al.
Clinical Chemistry|September 3, 2010
Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometryColeman T Turgeon, Mark J Magera, Carla D Cuthbert, et al.
The American Journal of the Medical Sciences|April 18, 2021
Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care PhysiciansKarl E Anderson, Raynah Lobo, Denise Salazar, et al.
Journal of Inherited Metabolic Disease|September 25, 2023
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disordersPeter J Wegwerth, Amy L White, Stephanie D Stoway, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2017
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe diseaseSilvia Tortorelli, Jason S Eckerman, Joseph J Orsini, et al.
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