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Tyrosinemia with plantar and palmar keratosis and keratitis.
An 111/2-year-old boy, born of a consanguineous marriage, had mental retardation, painful plantar and palmar keratosis, and dendritic keratitis associated with tyrosinemia, p-hydroxyphenylpyruvicaciduria, p -hydroxylaceticaciduria; Liver and renal functions were within normal ranges, and vitamin C loading did not correct the metabolic abnormalities. Expand
Phenylalanine Hydroxylase Activity in Liver Biopsies from Hyperphenylalaninemia Heterozygotes: Deviation from Proportionality with Gene Dosage
The finding that parents of patients with hyperphenylalaninemia have an average of 10% of the normal level of hepatic phenylalanine hydroxylase, a multimeric enzyme, can be explained on the assumption that the liver tissue of heterozygotes has an excess of enzyme molecules that contain at least one mutant subunit. Expand
Upregulation of nitric oxide synthase in cultured human keratinocytes after ultraviolet B and bradykinin
Upregulation of nitric oxide synthase in cultured human keratinocytes after ultraviolet B and bradykinin results in downregulation in animals and upregulation in humans. Expand
Hemodialysis hypotension: interaction of inhibitors, iNOS, and the interdialytic period.
iNOS is already induced in the cells of the buffy coat in many intermittently hemodialyzed ESRD subjects, but its expression may be masked by inhibitors. Expand
Effect of elevated plasma phenylalanine levels on other amino acids in phenylketonuric and normal subjects.
Many plasma amino acids are found in lower concentrations in patients with untreated phenylketonuria than in normal subjects or in other mentally retarded institutionalized control patients. TheExpand
Normal circulating adult human red blood cells contain inactive NOS proteins.
Findings indicate that human RBCs collected from normal adult individuals possess proteins that react with monoclonal antibodies to the Inducible and endothelial isoforms of NOS, but the proteins are without catalytic activity. Expand
Hereditary tyrosinemia and abnormal pyrrole metabolism.
A patient with hereditary tyrosinemia is described who developed metabolic and clinicalchanges compatible with acute intermittent porphyria.
Role of nitric oxide synthase in collagen-platelet interaction: involvement of platelet nonintegrin collagen receptor nitrotyrosylation.
Results demonstrate that the inhibitory effect of NO on collagen-induced platelet aggregation may be mediated by the nitrotyrosylation of the 65-kDa receptor. Expand
Reversible Sequestration of Nitric Oxide by Hemoglobin During Hemodialysis in End-Stage Renal Disease
In patients with >35% drop in systolic BP, NO was scavenged by Hb in the circulating RBCs, undoubtedly attenuating the degree of hypotension. Expand
Transport of neutral amino acids from feline cerebrospinal fluid.
The kinetic behavior of the transport systems described above resembles the Land the A-systems described by Oxender and Christensen for the Ehrlich ascites cell and may serve to maintain the low concentrations of neutral amino acids in CSF and indirectly regulate their concentration in brain. Expand