Autosomal recessive cerebellar ataxia caused by mutations in the <it>PEX2 </it>gene

by Wanders Ronald J, Waterham Hans R, Ferdinandusse Sacha, Sevin Caroline, Aubourg Patrick
Published 2011-03-01

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (<it>HSD17B4</it>) defines a new subtype of D-bifunctional protein deficiency

by McMillan Hugh J, Worthylake Thea, Schwartzentruber Jeremy, Gottlieb Chloe C, Lawrence Sarah E, MacKenzie Alex, Beaulieu Chandree L, Mooyer Petra A W, Wanders Ronald J A, Majewski Jacek, Bulman Dennis E, Geraghty Michael T, Ferdinandusse Sacha, Boycott Kym M
Published 2012-11-01

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

by Touw Catharina M L, Smit G Peter A, de Vries Maaike, de Klerk Johannis B C, Bosch Annet M, Visser Gepke, Mulder Margot F, Rubio-Gozalbo M, Elvers Bert, Niezen-Koning Klary E, Wanders Ronald J A, Waterham Hans R, Reijngoud Dirk-Jan, Derks Terry G J
Published 2012-05-01