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Orphanet Journal of Rare Diseases|November 27, 2014
Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up studyRaphael Schiffmann, Gregory M Pastores, Yeong-Hau H Lien, et al.Journal of the American Academy of Dermatology|February 5, 2005
Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophyChristine Liang, Kenneth H Kraemer, Andrea Morris, et al.American Journal of Medical Genetics. Part A|July 12, 2025
Unraveling the Genomic Architecture of Supernumerary (Iso-)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature-Based StudySebastian Burkart, Markus Ries, Verena Romero, et al.Pediatric Nephrology (Berlin, Germany)|April 23, 2022
Missing trial results: analysis of the current publication rate of studies in pediatric dialysis from 2003 to 2020Christian Patry, Alexander Fichtner, Britta Höcker, et al.Medicine|December 2, 2014
Screening for respiratory syncytial virus and isolation strategies in children hospitalized with acute respiratory tract infectionJohannes Pfeil, Julia Tabatabai, Anja Sander, et al.Molecular Genetics and Metabolism|November 13, 2020
EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective reviewChelsie N Poffenberger, Sara Inati, Nahid Tayebi, et al.Clinical Chemistry|September 13, 2005
Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter diseaseAdeline Vanderver, Raphael Schiffmann, Margaret Timmons, et al.Journal of Lipid Research|September 2, 2020
Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse modelSiamak Jabbarzadeh-Tabrizi, Michel Boutin, Taniqua S Day, et al.Drug Design, Development and Therapy|June 17, 2016
An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapyOzlem Goker-Alpan, Nicola Longo, Marie McDonald, et al.Biochimica Et Biophysica Acta|July 20, 2010
Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseasesFanny Mochel, Nadège Boildieu, Julie Barritault, et al.Pageof 27