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I Tein

Showing results (21-30 of 39) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1993
Skin fibroblast carnitine uptake in secondary carnitine deficiency disordersI Tein, D C De Vivo, D Ranucci, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Heterozygotes for plasmalemmal carnitine transporter defect are at increased risk for valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblastsI Tein, S DiMauro, Z W Xie, et al.
Pediatric Neurology|January 1, 1995
Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisoneI Tein, E J Donner, D E Hale, et al.
Human Mutation|January 1, 1996
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathyF Merante, T Myint, I Tein, et al.
Pediatric Research|September 1, 1993
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiencyI Tein, S DiMauro, Z W Xie, et al.
Journal of Inherited Metabolic Disease|August 11, 2004
OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation?A-M Lamhonwah, R Onizuka, S E Olpin, et al.
The Journal of Pediatrics|November 5, 1997
Immunoablation does not delay the neurologic progression of X-linked adrenoleukodystrophyM J Nowaczyk, E F Saunders, I Tein, et al.
Neurology|February 5, 1999
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathyI Tein, R H Haslam, W J Rhead, et al.
Pediatric Neurology|January 1, 1995
Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?I Tein, A E Sloane, E J Donner, et al.
Muscle & Nerve|February 1, 1997
Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuriaO N Elpeleg, A B Saada, A Shaag, et al.
Pageof 4

Showing results (21-30 of 39) with videos related to

Sort By:
Pageof 4
Journal of Inherited Metabolic Disease|January 1, 1993
Skin fibroblast carnitine uptake in secondary carnitine deficiency disordersI Tein, D C De Vivo, D Ranucci, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Heterozygotes for plasmalemmal carnitine transporter defect are at increased risk for valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblastsI Tein, S DiMauro, Z W Xie, et al.
Pediatric Neurology|January 1, 1995
Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisoneI Tein, E J Donner, D E Hale, et al.
Human Mutation|January 1, 1996
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathyF Merante, T Myint, I Tein, et al.
Pediatric Research|September 1, 1993
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiencyI Tein, S DiMauro, Z W Xie, et al.
Journal of Inherited Metabolic Disease|August 11, 2004
OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation?A-M Lamhonwah, R Onizuka, S E Olpin, et al.
The Journal of Pediatrics|November 5, 1997
Immunoablation does not delay the neurologic progression of X-linked adrenoleukodystrophyM J Nowaczyk, E F Saunders, I Tein, et al.
Neurology|February 5, 1999
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathyI Tein, R H Haslam, W J Rhead, et al.
Pediatric Neurology|January 1, 1995
Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?I Tein, A E Sloane, E J Donner, et al.
Muscle & Nerve|February 1, 1997
Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuriaO N Elpeleg, A B Saada, A Shaag, et al.
Pageof 4