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JIMD Reports|February 23, 2013
Unusual cardiac "masses" in a newborn with infantile pompe diseaseDaniel T Swarr, Beth Kaufman, Mark A Fogel, et al.JIMD Reports|February 23, 2013
Expanding the Spectrum of PMM2-CDG PhenotypeSandrine Vuillaumier-Barrot, Bertrand Isidor, Thierry Dupré, et al.JIMD Reports|February 23, 2013
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysisSachiko Nakagawa, Jie Zhan, Wei Sun, et al.JIMD Reports|February 23, 2013
Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detectionLaura E Laróvere, Silene M Silvera Ruiz, Celia J Angaroni, et al.JIMD Reports|February 23, 2013
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose IntoleranceLorenzo Ferri, Anna Caciotti, Catia Cavicchi, et al.JIMD Reports|February 23, 2013
Problems of adults with a mitochondrial disease - the patients' perspective: focus on lossGreet Noorda, Theo van Achterberg, Truus van der Hooft, et al.JIMD Reports|May 21, 2013
Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD DefectR Parini, F Furlan, A Brambilla, et al.JIMD Reports|July 13, 2013
A Japanese adult case of guanidinoacetate methyltransferase deficiencyTomoyuki Akiyama, Hitoshi Osaka, Hiroko Shimbo, et al.JIMD Reports|July 13, 2013
Accumulation of ordered ceramide-cholesterol domains in farber disease fibroblastsNatalia Santos Ferreira, Michal Goldschmidt-Arzi, Helena Sabanay, et al.JIMD Reports|July 16, 2013
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facilityJayesh Sheth, Mehul Mistri, Frenny Sheth, et al.Pageof 127