Child

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

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

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

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

Matthew G. Sampson

• Oct 1, 2010 • 1 min read

Amino Acid Substitution

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency

Curtis R. Coughlin

• Jul 1, 2010 • 1 min read

Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children

Ralph J. DeBerardinis

• Dec 1, 2008 • 1 min read