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Journal of Child Neurology|September 29, 2020
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological DescriptionGuy Helman, Angela N Viaene, Asako Takanohashi, et al.The Journal of Biological Chemistry|March 23, 2019
Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200Karine Choquet, Diane Forget, Elisabeth Meloche, et al.Journal of Inherited Metabolic Disease|September 15, 2006
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and CMarkus Ries, Ellen Schaefer, Till Lührs, et al.Metabolic Brain Disease|May 8, 2021
White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathologyAyelet Zerem, Liat Ben-Sira, Nitzan Vigdorovich, et al.The American Journal of Cardiology|February 1, 2017
Urinary 11-Dehydro-Thromboxane B2 and Mortality in Patients With Stable Coronary Artery DiseasePeter A McCullough, Anupama Vasudevan, Mohanakrishnan Sathyamoorthy, et al.Journal of Magnetic Resonance Imaging : JMRI|September 25, 2004
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging studyDavid F Moore, Frank Ye, Marie-Luise Brennan, et al.Virchows Archiv : an International Journal of Pathology|August 4, 2007
Cellular and tissue localization of globotriaosylceramide in Fabry diseaseHasan Askari, Christine R Kaneski, Cristina Semino-Mora, et al.Journal of Inherited Metabolic Disease|November 8, 2017
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcomeRaphael Schiffmann, Mary E Wallace, Daisy Rinaldi, et al.Autophagy|November 24, 2021
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published casesAfshin Saffari, Julian Schröter, Sven F Garbade, et al.Stroke|February 2, 2002
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacementDavid F Moore, Gheona Altarescu, Geoffrey S F Ling, et al.Pageof 27