Glutamine and hyperammonemic crises in patients with urea cycle disorders
2015 · Molecular Genetics and Metabolism · 39 citations
https://doi.org/10.1016/j.ymgme.2015.11.005
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Wendy E. Smith
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Wendy E. Smith is an academic researcher from Maine Medical Center. The author has contributed to research in topics: Metabolism and Genetic Disorders & Diet and metabolism studies & Genomic variations and chromosomal abnormalities. The author has an h-index of 35, co-authored 68 publications.
ORCID: 0000-0003-2182-2823Papers by this author
worksPsychiatric Features in Children with Genetic Syndromes: Toward Functional Phenotypes
2010 · Child and Adolescent Psychiatric Clinics of North America · 27 citations
https://doi.org/10.1016/j.chc.2010.02.001
Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate
2015 · Molecular Genetics and Metabolism Reports · 7 citations
https://doi.org/10.1016/j.ymgmr.2015.09.003
P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial
2024 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2024.100889
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