Humans

Low bone mineral density is a common finding in patients with homocystinuria

David R. Weber

• Mar 1, 2016 • 1 min read

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

Michael A. Swanson

• Oct 1, 2015 • 1 min read

Alpers Syndrome

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Curtis R. Coughlin

• Aug 1, 2015 • 1 min read

Acyl Coenzyme A

Clinical and biochemical characterization of four patients with mutations in ECHS1

Sacha Ferdinandusse

• Jun 1, 2015 • 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

Alpha Aminoadipic Semialdehyde

Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome

Curtis R. Coughlin

• Jan 1, 2015 • 1 min read

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Peter R. Baker

• Feb 1, 2014 • 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

2-Aminoadipic Acid

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials

Clara D. M. Van Karnebeek

• Nov 1, 2012 • 1 min read