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BMC Medical Genetics|April 26, 2011
UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approachNeil A Hanchard, Jennifer Skierka, Amy Weaver, et al.
Diagnostic Microbiology and Infectious Disease|June 11, 2021
Detection of SARS-CoV-2 IgG antibodies in dried blood spotsColeman T Turgeon, Karen A Sanders, Dane Granger, et al.
Journal of Immunotherapy and Precision Oncology|June 6, 2022
Eosinophilic Fasciitis with Concurrent Necrobiotic Granulomatous Dermatitis Related to Checkpoint Inhibition TherapyAdeeb Haroon, Joseph Tadros, Emily H Smith
International Journal of Neonatal Screening|June 2, 2021
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case ReportCamille S Corre, Dietrich Matern, Joan E Pellegrino, et al.
Journal of Neuroscience Research|September 18, 2016
Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?Randy L Carter, Lawrence Wrabetz, Kabir Jalal, et al.
Journal of Inherited Metabolic Disease|July 12, 2019
Higher dietary protein intake preserves lean body mass, lowers liver lipid deposition, and maintains metabolic control in participants with long-chain fatty acid oxidation disordersMelanie B Gillingham, Gabriela Elizondo, Annie Behrend, et al.
Journal of Inherited Metabolic Disease|September 8, 2010
An adult onset case of alpha-methyl-acyl-CoA racemase deficiencyEmily Helen Smith, Dimitar K Gavrilov, Devin Oglesbee, et al.
Pediatric Research|July 9, 2004
Carnitine content and expression of mitochondrial beta-oxidation enzymes in placentas of wild-type (OCTN2(+/+)) and OCTN2 Null (OCTN2(-/-)) MicePrem S Shekhawat, Han-Soo Yang, Michael J Bennett, et al.
American Journal of Medical Genetics. Part A|April 2, 2004
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutationVito Iacobazzi, Marzia Pasquali, Rani Singh, et al.
The Journal of Gene Medicine|August 23, 2008
Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient miceStuart G Beattie, Eric Goetzman, Qiuishi Tang, et al.
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