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JIMD Reports|January 14, 2022
Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophyTakahiro Ikeda, Yuta Kawahara, Akihiko Miyauchi, et al.JIMD Reports|January 14, 2022
Chronic lithium administration in a mouse model for Krabbe diseaseAmbra Del Grosso, Gabriele Parlanti, Lucia Angella, et al.JIMD Reports|January 14, 2022
Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria-An approach using statistical modellingLakshminarayan R Ranganath, Anna M Milan, Andrew T Hughes, et al.JIMD Reports|January 14, 2022
Neurocognitive profile of adults with the Norrbottnian type of Gaucher diseasePanagiota Tsitsi, Ioanna Markaki, Josefine Waldthaler, et al.JIMD Reports|November 12, 2021
A stone in the boneMatthieu Halfon, Pierre Cochat, Sebastien Kissling, et al.JIMD Reports|November 12, 2021
Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry diseaseEline C B Eskes, Martijn J C van der Lienden, Joris J T H Roelofs, et al.JIMD Reports|November 12, 2021
Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndromeMandeep Rana, Karen Cuttin, Gerard T Berry, et al.JIMD Reports|November 12, 2021
Clinical variability and outcome of succinyl-CoA:3-ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 casesMalak A Alghamdi, Mohammed Tohary, Hamad Alzaidan, et al.JIMD Reports|August 9, 2019
Sitosterolemia-10 years observation in two sistersLara Veit, Gabriella Allegri Machado, Céline Bürer, et al.JIMD Reports|August 9, 2019
The Mini Mental State Examination does not accurately screen for objective cognitive impairment in Fabry DiseaseSimon Körver, Sara A J van de Schraaf, Gert J Geurtsen, et al.Pageof 127