April Rasala Lehman
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View article: P025: Characterization of a silent variant in a neonate with presentation of clinical variant classic galactosemia
P025: Characterization of a silent variant in a neonate with presentation of clinical variant classic galactosemia Open
Classic galactosemia is an inborn error of metabolism due to deficiency of galactose-1-Phosphate Uridylyltranserase (GALT), encoded by the GALT gene. GALT converts galactose-1-phosphate to glucose-1-phosphate in the Leloir pathway. The def…
View article: Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin Open
View article: P330: Gabriele-de Vries syndrome: Exploring the phenotype of a recently described genetic disorder
P330: Gabriele-de Vries syndrome: Exploring the phenotype of a recently described genetic disorder Open
View article: P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)*
P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)* Open