Jan Lukáš

Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8

Marija Trajkovic, Theo J. Visser, Jens Mittag et al. · Journal of Clinical Investigation · 2007 · 351 citations · Full text

Life Sciences, Endocrinology, Neuroscience +17

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients

Arndt Rolfs, Anne‐Katrin Giese, Ulrike Grittner et al. · PLoS ONE · 2013 · 194 citations · Full text

Life Sciences, Biochemistry, Pathology +17

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease

Jan Lukáš, Anne‐Katrin Giese, Arseni Markoff et al. · PLoS Genetics · 2013 · 160 citations · Full text

Life Sciences, Biochemistry, Genetics +17

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

Anne‐Katrin Giese, Hermann Mascher, Ulrike Grittner et al. · Orphanet Journal of Rare Diseases · 2015 · 131 citations · Full text

Life Sciences, Neurology, Pathology +17

Newborn Screening for Lysosomal Storage Disorders in Hungary

Judit Wittmann, Eszter Karg, Sándor Túri et al. · JIMD Reports · 2012 · 97 citations

Medicine, Genetics, Pediatrics +17