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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 22, 2018
Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)J Daniel Sharer, Irene De Biase, Dietrich Matern, et al.
Pediatrics|June 15, 2011
Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screeningKyriakie Sarafoglou, Dietrich Matern, Krista Redlinger-Grosse, et al.
Clinics in Laboratory Medicine|August 14, 2017
Inflammatory Dermatopathology for General Surgical PathologistsEmily H Smith, May P Chan
Molecular Genetics and Metabolism|June 18, 2003
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyMelanie B Gillingham, William E Connor, Dietrich Matern, et al.
Molecular Genetics and Metabolism|March 23, 2005
Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of lifeRegina Ensenauer, Mendel Tuchman, Mounif El-Youssef, et al.
Fertility and Sterility|July 10, 2012
Potential of inner cell mass outgrowth and amino acid turnover as markers of quality in the in vitro fertilization laboratoryRavi P Gada, Gaurang S Daftary, David L Walker, et al.
Plos One|May 28, 2021
Validation of a multiplex flow immunoassay for detection of IgG antibodies against SARS-CoV-2 in dried blood spotsColeman T Turgeon, Karen A Sanders, Piero Rinaldo, et al.
Molecular Genetics and Metabolism|July 19, 2011
Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variantMelanie B Gillingham, Matthew Hirschfeld, Sarah Lowe, et al.
Molecular Genetics and Metabolism|February 5, 2013
Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic feversAnna Simon, Joost P H Drenth, Dietrich Matern, et al.
Clinical Chemistry|July 22, 2016
Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass SpectrometrySilvia Tortorelli, Coleman T Turgeon, Dimitar K Gavrilov, et al.
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