Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases
David Cassiman, Gerald F. Cox(Genesys (United States)), Eugen Mengel(University Medical Center of the Johannes Gutenberg University Mainz), Hadhami Ben Turkia(Hôpital La Rabta), Bruno Bembi(University of Udine), Paulina Mabe(Clinica Santa Maria), Roberto Giugliani(Instituto de Biologia Molecular e Celular), Tsutomu Takahashi(Akita University), Jackie Imrie, Manuel Schiff(Inserm), Moeenaldeen Al‐Sayed(King Faisal Specialist Hospital & Research Centre), Seymour Packman(University of California, San Francisco)
Cited by 122
Related Papers
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase
|Nature Genetics|1993|1.4k
Elafibranor, an Agonist of the Peroxisome Proliferator−Activated Receptor−α and −δ, Induces Resolution of Nonalcoholic Steatohepatitis Without Fibrosis Worsening
|Gastroenterology|2016|1k
Agalsidase-Beta Therapy for Advanced Fabry Disease
|Annals of Internal Medicine|2007|565
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
|New England Journal of Medicine|2016|555
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
|Nephrology Dialysis Transplantation|2009|366