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JIMD Reports|December 21, 2016
Bone Health in Classic Galactosemia: Systematic Review and Meta-AnalysisBritt van Erven, Lindsey Welling, Sandra C van Calcar, et al.JIMD Reports|April 11, 2014
Newborn screening for galactosemia in the United States: looking back, looking around, and looking aheadBrook M Pyhtila, Kelly A Shaw, Samantha E Neumann, et al.JIMD Reports|March 26, 2014
Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher diseaseErin R McNamara, Jennifer Sullivan, Shashi K Nagaraj, et al.JIMD Reports|April 24, 2014
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH DefectSaskia B Wortmann, Leo A J Kluijtmans, Silvia Sequeira, et al.JIMD Reports|May 7, 2014
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosisPaulina Nieves Cobos, Cordula Steglich, René Santer, et al.JIMD Reports|September 27, 2014
Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiencyAnnapurna Sudarsanam, Harry Singh, Bridget Wilcken, et al.JIMD Reports|September 27, 2014
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?Danique van Vliet, Esther van Dam, Margreet van Rijn, et al.JIMD Reports|September 17, 2014
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-upL van der Tol, David Cassiman, Gunnar Houge, et al.JIMD Reports|October 14, 2014
Severe impairment of regulatory T-cells and Th1-lymphocyte polarization in patients with Gaucher diseaseChristos Sotiropoulos, George Theodorou, Constantina Repa, et al.JIMD Reports|August 4, 2014
Revised proposal for the prevention of low bone mass in patients with classic galactosemiaBritt van Erven, Myrna M M Römers, M Estela Rubio-GozalboPageof 127