Genetic Studies of Lysosomal Storage Disorders
|ClinicalTrials.gov Identifier: NCT00001215|
Recruitment Status : Enrolling by invitation
First Posted : November 4, 1999
Last Update Posted : May 22, 2018
National Human Genome Research Institute (NHGRI)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
No Study Results Posted on ClinicalTrials.gov for this Study
|Recruitment Status :||Enrolling by invitation|
|Primary Completion Date :||No date given|
|Study Completion Date :||No date given|
Sidransky E, Bottler A, Stubblefield B, Ginns EI. DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? Hum Mutat. 1994;3(1):25-8.
Sidransky E, Sherer DM, Ginns EI. Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res. 1992 Oct;32(4):494-8. Review.