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

S Packman

Showing results (81-90 of 98) with videos related to

Pageof 10
Sort By:
The Journal of Biological Chemistry|April 25, 1991
Sialic acid metabolism in sialuria fibroblastsR Seppala, F Tietze, D Krasnewich, et al.
The Journal of Pediatrics|February 5, 2000
Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiencyG M Enns, M J Bennett, C L Hoppel, et al.
Pediatrics|March 1, 1987
Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease)H A Kretzschmar, S J DeArmond, T K Koch, et al.
Biochemical and Molecular Medicine|February 1, 1996
Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletionS G Kaler, S Das, B Levinson, et al.
Journal of Inherited Metabolic Disease|August 7, 2001
Clinical course and biochemistry of sialuriaG M Enns, R Seppala, T J Musci, et al.
Lancet (London, England)|June 26, 1982
Prenatal treatment of biotin responsive multiple carboxylase deficiencyS Packman, M J Cowan, M S Golbus, et al.
Pediatric Research|December 14, 1999
Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California populationG M Enns, D R Martinez, A I Kuzmin, et al.
The Journal of Pediatrics|June 1, 1987
Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical casesK Hayasaka, K Tada, N Fueki, et al.
American Journal of Medical Genetics|January 1, 1981
Deletions of different segments of the long arm of chromosome 4J A Mitchell, S Packman, W D Loughman, et al.
The Journal of Investigative Dermatology|November 1, 1994
Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblingsE Chen, J E Cleaver, C A Weber, et al.
Pageof 10

Showing results (81-90 of 98) with videos related to

Sort By:
Pageof 10
The Journal of Biological Chemistry|April 25, 1991
Sialic acid metabolism in sialuria fibroblastsR Seppala, F Tietze, D Krasnewich, et al.
The Journal of Pediatrics|February 5, 2000
Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiencyG M Enns, M J Bennett, C L Hoppel, et al.
Pediatrics|March 1, 1987
Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease)H A Kretzschmar, S J DeArmond, T K Koch, et al.
Biochemical and Molecular Medicine|February 1, 1996
Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletionS G Kaler, S Das, B Levinson, et al.
Journal of Inherited Metabolic Disease|August 7, 2001
Clinical course and biochemistry of sialuriaG M Enns, R Seppala, T J Musci, et al.
Lancet (London, England)|June 26, 1982
Prenatal treatment of biotin responsive multiple carboxylase deficiencyS Packman, M J Cowan, M S Golbus, et al.
Pediatric Research|December 14, 1999
Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California populationG M Enns, D R Martinez, A I Kuzmin, et al.
The Journal of Pediatrics|June 1, 1987
Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical casesK Hayasaka, K Tada, N Fueki, et al.
American Journal of Medical Genetics|January 1, 1981
Deletions of different segments of the long arm of chromosome 4J A Mitchell, S Packman, W D Loughman, et al.
The Journal of Investigative Dermatology|November 1, 1994
Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblingsE Chen, J E Cleaver, C A Weber, et al.
Pageof 10