[Hepatic cholesterol ester storage disease. Two new cases diagnosed in adults].
Paul G. Ekert(Royal Children's Hospital), Daniel Dhumeaux(Université Paris-Est Créteil), J Étienne, Margarete A. Fabre(University of Cambridge), Élie Serge Zafrani, C Buffet, Jean‐Michel Métreau
PubMed
January 1, 1991
Cited by 1
Related Papers
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
|Nature Genetics|2011|604
Clonal dynamics of haematopoiesis across the human lifespan
|Nature|2022|505
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
|Genetics in Medicine|2016|411