PMID: 8606477Feb 21, 1996Paper

Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease

JAMA : the Journal of the American Medical Association

Abstract

To provide physicians with a responsible assessment of the diagnosis and treatment of Gaucher disease. A nonfederal, nonadvocate, 14-member panel representing the fields of pediatrics, obstetrics and gynecology, genetics, endocrinology, molecular biology, internal medicine, and biostatistics. In addition, 30 experts in genetics, pediatrics, neurology, obstetrics and gynecology, orthopedics, hematology, genetic counseling, clinical pathology, and epidemiology presented data to the panel and a conference audience of 230 during a 1 1/2 public session. Questions and statements from conference attendees were considered during the open session. Closed deliberations by the panel occurred during the remainder of the second day and the morning of the third. The literature was searched through MEDLINE, and an extensive bibliography of references was provided to the panel and the conference audience. Experts prepared abstracts with relevant citations from the literature. Scientific evidence was given precedence over clinical anecdotal experience. The panel, answering predefined questions, developed their conclusions based on the scientific evidence presented in open forum and on the scientific literature. The panel composed a draft statem...Continue Reading

Citations

Jan 9, 2007·Journal of Inherited Metabolic Disease·A C VedderC E M Hollak
Mar 7, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Gregory A GrabowskiStephan vom Dahl
Jun 2, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Dana FalconeVivianna M Van Deerlin
Dec 18, 2002·Cytopathology : Official Journal of the British Society for Clinical Cytology·J OrtizA Bullón
Jan 27, 2007·Vojnosanitetski pregled. Military-medical and pharmaceutical review·Milomir Dokić
Jul 21, 2004·Pathologie-biologie·D P Germain
Nov 10, 2007·Pediatric Neurosurgery·Anil GargA K Mahapatra
Jul 7, 2001·The New England Journal of Medicine·W A Gahl
Sep 26, 2009·The Journal of Pediatrics·Ana Maria MartinsUNKNOWN Brazilian Study Group on Gaucher Disease and other Lysosomal Storage Diseases
Oct 8, 1997·The American Journal of Medicine·C E HollakM H van Oers
Nov 7, 2006·Molecular Genetics and Metabolism·Ellen SidranskyEdward I Ginns
Feb 27, 2004·Clinical Genetics·D P Germain
May 6, 2004·The Journal of Pediatrics·Gregory A Grabowski
Mar 14, 1998·Baillière's Clinical Haematology·E Sidransky, E I Ginns
Mar 14, 1998·Baillière's Clinical Haematology·E Levy-Lahad, A Zimran
Sep 26, 2006·Molecular Genetics and Metabolism·Elisa SobreiraGregory A Grabowski
Oct 29, 1998·Blood Cells, Molecules & Diseases·I J Cohen, R Zaizov
Jul 1, 1997·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·S S Sheth, A N Malpani
Sep 4, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Brett BaskovichCarole Oddoux
Oct 28, 2015·Nature Reviews. Endocrinology·Carla E M Hollak, G Kees Hovingh

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