Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation (2005)
Cleary, M.A., Dorland, L., Koning, T.J. De, Poll-The, B.T., Duran, M., Mandell, R., ...
Ramesh, V, McClatchey, A I, Ramesh, N, Benoit, L A, Berson, E L, Shih, V E, ...
Gyrate atrophy (GA), a recessive eye disease involving progressive loss of vision due to chorioretinal degeneration, is associated with a deficiency of the mitochondrial enzyme ornithine...
Johnson, J L, Wuebbens, M M, Mandell, R, Shih, V E
Molybdenum cofactor deficiency is a devastating disease with affected patients displaying the symptoms of a combined deficiency of sulfite oxidase and xanthine dehydrogenase. Because of the extreme...
Tanaka, K, Mandell, R, Shih, V E
Leucine metabolism in cultured skin fibroblasts from patients with isovaleric acidemia was compared with that in normal fibroblasts and in cells from patients with maple syrup urine disease using...
Valle, D, Goodman, S I, Applegarth, D A, Shih, V E, Phang, J M
Type II hyperprolinemia is an inherited abnormality in amino acid metabolism characterized by elevated plasma proline concentrations, iminoglycinuria, and the urinary excretion of delta1-pyrroline...
Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.
McClatchey, A I, Kaufman, D L, Berson, E L, Tobin, A J, Shih, V E, Gusella, J F, ...
Gyrate atrophy (GA), a recessive eye disease involving progressive vision loss due to chorioretinal degeneration, is associated with the deficiency of the mitochondrial enzyme ornithine...
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.
Shih, V E, Berson, E L, Mandell, R, Schmidt, S Y
Gyrate atrophy of the choroid and retina is a chorioretinal degeneration associated with hyperornithinemia with an autosomal recessive mode of inheritance. Cultured skin fibroblasts from five...
The prognosis of hyperlysinemia: an interim report.
Dancis, J, Hutzler, J, Ampola, M G, Shih, V E, Van Gelderen, H H, Kirby, L T, ...
Ten patients with familial hyperlysinemia with lysine-ketoglutarate reductase deficiency, identified through newborn screening programs or family surveys, were selected for review. Ages ranged from 2...
Ramesh, V, McClatchey, A I, Ramesh, N, Benoit, L A, Berson, E L, Shih, V E, ...
Gyrate atrophy (GA), a recessive eye disease involving progressive loss of vision due to chorioretinal degeneration, is associated with a deficiency of the mitochondrial enzyme ornithine...
Johnson, J L, Wuebbens, M M, Mandell, R, Shih, V E
Molybdenum cofactor deficiency is a devastating disease with affected patients displaying the symptoms of a combined deficiency of sulfite oxidase and xanthine dehydrogenase. Because of the extreme...
Tanaka, K, Mandell, R, Shih, V E
Leucine metabolism in cultured skin fibroblasts from patients with isovaleric acidemia was compared with that in normal fibroblasts and in cells from patients with maple syrup urine disease using...
Valle, D, Goodman, S I, Applegarth, D A, Shih, V E, Phang, J M
Type II hyperprolinemia is an inherited abnormality in amino acid metabolism characterized by elevated plasma proline concentrations, iminoglycinuria, and the urinary excretion of delta1-pyrroline...
Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.
McClatchey, A I, Kaufman, D L, Berson, E L, Tobin, A J, Shih, V E, Gusella, J F, ...
Gyrate atrophy (GA), a recessive eye disease involving progressive vision loss due to chorioretinal degeneration, is associated with the deficiency of the mitochondrial enzyme ornithine...
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.
Shih, V E, Berson, E L, Mandell, R, Schmidt, S Y
Gyrate atrophy of the choroid and retina is a chorioretinal degeneration associated with hyperornithinemia with an autosomal recessive mode of inheritance. Cultured skin fibroblasts from five...
The prognosis of hyperlysinemia: an interim report.
Dancis, J, Hutzler, J, Ampola, M G, Shih, V E, Van Gelderen, H H, Kirby, L T, ...
Ten patients with familial hyperlysinemia with lysine-ketoglutarate reductase deficiency, identified through newborn screening programs or family surveys, were selected for review. Ages ranged from 2...
The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.
Ramesh, V, Benoit, L A, Crawford, P, Harvey, P T, Shows, T B, Shih, V E, ...
A cDNA probe (HOAT1) for ornithine aminotransferase (OAT) has recently been used to map (1) the structural gene for this enzyme to chromosome 10 and (2) several related DNA sequences to the X...
Shih, V E, Mandell, R, Berson, E L
Gyrate atrophy of the choroid and retina that is due to ornithine ketoacid transaminase (OKT) deficiency is an autosomal recessive disorder. Fibroblasts from heterozygotes for the...
A microassay for argininosuccinase in cultured cells.
Jacoby, L B, Littlefield, J W, Milunsky, A, Shih, V E, Wilroy, R S
Shih, V E, Fringer, J M, Mandell, R, Kraus, J P, Berry, G T, Heidenreich, R A, ...
Cystathionine beta-synthase (CBS) deficiency is an autosomal recessive disorder characterized by homocystinuria and multisystem clinical disease. Patients responsive to pyridoxine usually have a...