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

Allan M Lund

Showing results (21-30 of 78) with videos related to

Pageof 8
Sort By:
Journal of Inherited Metabolic Disease|August 3, 2019
Increased risk of sudden death in untreated primary carnitine deficiencyJan Rasmussen, Morten Dunø, Allan M Lund, et al.
JIMD Reports|September 3, 2013
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin TreatmentJessica Nouws, Flemming Wibrand, Mariël van den Brand, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 12, 2018
Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort studyChristoffer V Madsen, Henrik Granqvist, Jørgen H Petersen, et al.
Journal of Inherited Metabolic Disease|January 11, 2012
Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allelePeter Bross, Jane B Frederiksen, Anne S Bie, et al.
Journal of Medical Genetics|December 15, 2012
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patientsFrank Rauch, Pierre Moffatt, Moira Cheung, et al.
JIMD Reports|March 13, 2015
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase DeficiencyLise Aksglaede, Mette Christensen, Jess H Olesen, et al.
Orphanet Journal of Rare Diseases|September 30, 2020
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosisJulia B Hennermann, Nathalie Guffon, Federica Cattaneo, et al.
Molecular Vision|March 2, 2019
A splice-site variant in the lncRNA gene <i>RP1-140A9.1</i> cosegregates in the large Volkmann cataract familyHans Eiberg, Annemette F Mikkelsen, Mads Bak, et al.
JIMD Reports|February 23, 2013
Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta PatientMaria Francisca Coutinho, Liliana da Silva Santos, Lúcia Lacerda, et al.
Molecular Genetics and Metabolism|October 30, 2025
Nationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in DenmarkCecilie S Videbæk, Morten Dunø, Suzanne G Lindquist, et al.
Pageof 8

Showing results (21-30 of 78) with videos related to

Sort By:
Pageof 8
Journal of Inherited Metabolic Disease|August 3, 2019
Increased risk of sudden death in untreated primary carnitine deficiencyJan Rasmussen, Morten Dunø, Allan M Lund, et al.
JIMD Reports|September 3, 2013
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin TreatmentJessica Nouws, Flemming Wibrand, Mariël van den Brand, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 12, 2018
Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort studyChristoffer V Madsen, Henrik Granqvist, Jørgen H Petersen, et al.
Journal of Inherited Metabolic Disease|January 11, 2012
Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allelePeter Bross, Jane B Frederiksen, Anne S Bie, et al.
Journal of Medical Genetics|December 15, 2012
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patientsFrank Rauch, Pierre Moffatt, Moira Cheung, et al.
JIMD Reports|March 13, 2015
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase DeficiencyLise Aksglaede, Mette Christensen, Jess H Olesen, et al.
Orphanet Journal of Rare Diseases|September 30, 2020
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosisJulia B Hennermann, Nathalie Guffon, Federica Cattaneo, et al.
Molecular Vision|March 2, 2019
A splice-site variant in the lncRNA gene <i>RP1-140A9.1</i> cosegregates in the large Volkmann cataract familyHans Eiberg, Annemette F Mikkelsen, Mads Bak, et al.
JIMD Reports|February 23, 2013
Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta PatientMaria Francisca Coutinho, Liliana da Silva Santos, Lúcia Lacerda, et al.
Molecular Genetics and Metabolism|October 30, 2025
Nationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in DenmarkCecilie S Videbæk, Morten Dunø, Suzanne G Lindquist, et al.
Pageof 8