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Pediatrics|June 27, 2012
Vitamin B6 vitamer concentrations in cerebrospinal fluid differ between preterm and term newborn infantsMonique Albersen, Floris Groenendaal, Maria van der Ham, et al.American Journal of Medical Genetics. Part A|May 12, 2005
Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndromeHester Y Kroes, Rutger-Jan A J Nievelstein, Peter G Barth, et al.Neonatology|February 25, 2016
Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening ProgrammesWillemijn J van Rijt, Geneviève D Koolhaas, Jolita Bekhof, et al.Journal of Inherited Metabolic Disease|February 17, 2026
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte DataMarit Schwantje, Rose E Maase, Eugenie Dekkers, et al.JIMD Reports|February 23, 2013
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiencyEugène F Diekman, Carolien C A Boelen, Berthil H C M T Prinsen, et al.Journal of Clinical Medicine|March 8, 2020
Conventional and Unconventional Therapeutic Strategies for Sialidosis Type IRosario Mosca, Diantha van de Vlekkert, Yvan Campos, et al.Developmental Medicine and Child Neurology|May 11, 2007
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed developmentSascha Vermeer, David A Koolen, Gepke Visser, et al.Journal of Inherited Metabolic Disease|November 27, 2010
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatmentAnnet M Bosch, Nico G G M Abeling, Lodewijk Ijlst, et al.Journal of Inherited Metabolic Disease|October 12, 2014
High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disordersSebastian Franik, Hidde H Huidekoper, Gepke Visser, et al.Journal of Inherited Metabolic Disease|May 29, 2020
Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance studySuzan J G Knottnerus, Jeannette C Bleeker, Sacha Ferdinandusse, et al.Pageof 9