Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

G M Mancini

Showing results (11-20 of 32) with videos related to

Pageof 4
Sort By:
Human Genetics|May 1, 1986
Ganglioside GM1 metabolism in living human fibroblasts with beta-galactosidase deficiencyG M Mancini, A T Hoogeveen, H Galjaard, et al.
Developmental Neuroscience|January 1, 1991
Sialic acid storage disorders: observations on clinical and biochemical variationG M Mancini, F W Verheijen, C E Beerens, et al.
The Journal of Biological Chemistry|December 16, 1998
Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporterA C Havelaar, G M Mancini, C E Beerens, et al.
American Journal of Medical Genetics|July 31, 1995
Infantile sialic acid storage disease: biochemical studiesB Berra, R Gornati, S Rapelli, et al.
Journal of Medical Genetics|October 23, 1998
Fibroblast silver loading for the diagnosis of Menkes diseaseF W Verheijen, C E Beerens, A C Havelaar, et al.
The Journal of Biological Chemistry|July 5, 1990
Photoaffinity labeling of a bacterial sialidase with an aryl azide derivative of sialic acidG T van der Horst, G M Mancini, R Brossmer, et al.
Neuropediatrics|April 21, 2001
Pitfalls in the diagnosis of multiple sulfatase deficiencyG M Mancini, O P van Diggelen, J G Huijmans, et al.
Enzyme|January 1, 1987
Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiencyH Galjaard, R Willemsen, A T Hoogeveen, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|January 7, 2012
Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhageK D Lichtenbelt, L R Pistorius, S M De Tollenaer, et al.
Nederlands Tijdschrift Voor Geneeskunde|May 15, 2004
[From gene to disease; Krabbe disease and galactosylceramidase deficiency]W J Kleijer, O P van Diggelen, D J Halley, et al.
Pageof 4

Showing results (11-20 of 32) with videos related to

Sort By:
Pageof 4
Human Genetics|May 1, 1986
Ganglioside GM1 metabolism in living human fibroblasts with beta-galactosidase deficiencyG M Mancini, A T Hoogeveen, H Galjaard, et al.
Developmental Neuroscience|January 1, 1991
Sialic acid storage disorders: observations on clinical and biochemical variationG M Mancini, F W Verheijen, C E Beerens, et al.
The Journal of Biological Chemistry|December 16, 1998
Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporterA C Havelaar, G M Mancini, C E Beerens, et al.
American Journal of Medical Genetics|July 31, 1995
Infantile sialic acid storage disease: biochemical studiesB Berra, R Gornati, S Rapelli, et al.
Journal of Medical Genetics|October 23, 1998
Fibroblast silver loading for the diagnosis of Menkes diseaseF W Verheijen, C E Beerens, A C Havelaar, et al.
The Journal of Biological Chemistry|July 5, 1990
Photoaffinity labeling of a bacterial sialidase with an aryl azide derivative of sialic acidG T van der Horst, G M Mancini, R Brossmer, et al.
Neuropediatrics|April 21, 2001
Pitfalls in the diagnosis of multiple sulfatase deficiencyG M Mancini, O P van Diggelen, J G Huijmans, et al.
Enzyme|January 1, 1987
Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiencyH Galjaard, R Willemsen, A T Hoogeveen, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|January 7, 2012
Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhageK D Lichtenbelt, L R Pistorius, S M De Tollenaer, et al.
Nederlands Tijdschrift Voor Geneeskunde|May 15, 2004
[From gene to disease; Krabbe disease and galactosylceramidase deficiency]W J Kleijer, O P van Diggelen, D J Halley, et al.
Pageof 4