Inborn Errors

Amino Acid Metabolism

Is it time to start to consider treating the liver in glutaric aciduria type 1?

Sander Houten

• Jul 1, 2023 • 1 min read

Amino Acid Metabolism

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey

Laurie Bernstein

• Oct 1, 2020 • 1 min read

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

Saskia B. Wortmann

• May 1, 2017 • 1 min read

3-Hydroxyacyl CoA Dehydrogenases

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

Kathryn C. Chatfield

• Mar 1, 2015 • 1 min read

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

Hung-Chun Yu

• Sep 1, 2013 • 1 min read

Cerebral Cortex

Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency

Nicholas v. Stence

• Jul 1, 2013 • 1 min read

Acyl-CoA Dehydrogenase

Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency

Curtis R. Coughlin

• Dec 1, 2010 • 1 min read