Sebastian Oppermann

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

Noa Hurvitz, Tama Dinur, Michal Becker‐Cohen et al. · International Journal of Molecular Sciences · 2019 · 71 citations · Full text

Life Sciences, Biochemistry, Pediatrics +14

Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

Claudia Cozma, Paskal Cullufi, Guido Kramp et al. · International Journal of Molecular Sciences · 2020 · 40 citations · Full text

Life Sciences, Biochemistry, Molecular Medicine +14

Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease

Tama Dinur, Ari Zimran, Michal Becker‐Cohen et al. · Journal of Clinical Medicine · 2019 · 32 citations · Full text

Medicine, Endocrinology, Hematology +10

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

Lígia S. Almeida, Catarina Pereira, Ruxandra Aanicai et al. · European Journal of Human Genetics · 2022 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

Pilar Guatibonza Moreno, Luba M. Pardo, Catarina Pereira et al. · European Journal of Human Genetics · 2023 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17