Last Updated: 09/26/2026
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Found 6 publications
Continuation of pegvaliase treatment during pregnancy: A case report.
Journal: Molecular genetics and metabolism reports
Published: October 23, 2020
Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency.
Journal: Molecular genetics and metabolism reports
Published: April 17, 2020
Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.
Journal: Molecular genetics and metabolism
Published: April 26, 2019
Skin lesions in a patient with Cobalamin C disease in poor metabolic control.
Journal: Journal of inherited metabolic disease
Published: August 21, 2017
Severe Brain Malformations in an Infant With Pyruvate Dehydrogenase Deficiency and Down Syndrome.
Journal: Pediatric neurology
Published: March 30, 2017
Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.
Journal: Expert review of endocrinology & metabolism
Published: January 01, 2016
Showing 1-6 of 6
Last Updated: 09/26/2026