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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.
Plos Genetics|January 4, 2014
TATN-1 mutations reveal a novel role for tyrosine as a metabolic signal that influences developmental decisions and longevity in Caenorhabditis elegansAnnabel A Ferguson, Sudipa Roy, Kaitlyn N Kormanik, et al.
Molecular Genetics and Metabolism|June 16, 2010
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screeningJaffar Alfardan, Al-Walid Mohsen, Sara Copeland, 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.
Molecular Genetics and Metabolism|February 22, 2002
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficienciesSusan R Hintz, Dietrich Matern, Arnold Strauss, et al.
Clinical Chemistry|December 6, 2003
Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometryJean M Lacey, Carla Z Minutti, Mark J Magera, et al.
Facial Plastic Surgery : FPS|July 18, 2019
Considerations for Timing of Defect Reconstruction in Cutaneous Melanoma of the Head and NeckArya W Namin, Georgeanne E Cornell, Emily H Smith, et al.
Cureus|November 5, 2021
Paraneoplastic Erythema Annulare Centrifugum Eruption (PEACE) Associated With Metastatic Colorectal AdenocarcinomaChase A Pitchford, Mary E R Shenk, Susan Zurowski, 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.
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.
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