1. ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. Issue 5 (10th June 2016) Authors: Morava, Eva; Tiemes, Vera; Thiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, Hans; Mulder, Margot; Rubio‐Gozalbo, Estela; Visser, Gepke; van Hasselt, Peter; Horovitz, Dafne D. G.; de Souza, Carolina Fischinger Moura; Schwartz, Ida V. D.; Green, Andrew; Al‐Owain, Mohammed; Uziel, Gra... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 5(2016) Page Start: 713 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies. (March 2021) Authors: Mereis, Michelle; Wanders, Ronald J.A.; Schoonen, Maryke; Dercksen, Marli; Smuts, Izelle; van der Westhuizen, Francois H. Journal: International journal of biochemistry & cell biology Issue: Volume 132(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. Issue 5 (8th August 2016) Authors: Morava, Eva; Tiemes, Vera; Thiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, Hans; Mulder, Margot; Rubio‐Gozalbo, Estela; Visser, Gepke; van Hasselt, Peter; Horovitz, Dafne D. G.; de Souza, Carolina Fischinger Moura; Schwartz, Ida V. D.; Green, Andrew; Al‐Owain, Mohammed; Uziel, Gra... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 5(2016) Page Start: 759 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Novel Mutation in the IDS Gene in Hunter Syndrome Associated with Severe Cardiac Lesions. (27th February 2021) Authors: Satekge, Tumelo M; Honey, Engela M; Pitso, Boitumelo; Dercksen, Marli; Pillay, Tahir S Journal: Clinical chemistry Issue: Volume 67:Number 3(2021) Page Start: 564 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗