Laura Demuth

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

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

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Claudia Cozma, Marina Hovakimyan, Marius‐Ionuţ Iuraşcu et al. · Orphanet Journal of Rare Diseases · 2019 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

[Familial Kahler's disease. Immunological and karyotype study of a case].

G Manigand, A Sarrazin, Laura Demuth et al. · PubMed · 1970 · 13 citations

Life Sciences, Genetics, Genodermatoses +5

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the <i>AGR2</i> gene

Aida M. Bertoli‐Avella, Ronja Hotakainen, Maryam Al Shehhi et al. · Journal of Medical Genetics · 2021 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17