guanosine-triphosphate and Deafness

guanosine-triphosphate has been researched along with Deafness* in 1 studies

Other Studies

1 other study(ies) available for guanosine-triphosphate and Deafness

Article	Year
An inborn error of purine metabolism, deafness and neurodevelopmental abnormality. Neuropediatrics, 1985, Volume: 16, Issue:2 A syndrome of hyperuricemia, sensorineural deafness, mild mental handicap and congenital disequilibrium in a four-year-old boy is probably inherited as a sex-linked condition since his mother has sensorineural deafness and similar biochemical abnormalities. There is evidence of a superactive PP-ribose-P synthetase, normal purine salvage enzymes, and severe depletion of nicotinamide adenine dinucleotide and guanine triphosphate in red cells. Topics: Deafness; Erythrocytes; Female; Guanosine Triphosphate; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; NAD; Purine-Pyrimidine Metabolism, Inborn Errors; Ribose-Phosphate Pyrophosphokinase; Syndrome; Uric Acid; X Chromosome	1985

Article

Year

An inborn error of purine metabolism, deafness and neurodevelopmental abnormality.

Neuropediatrics, 1985, Volume: 16, Issue:2

A syndrome of hyperuricemia, sensorineural deafness, mild mental handicap and congenital disequilibrium in a four-year-old boy is probably inherited as a sex-linked condition since his mother has sensorineural deafness and similar biochemical abnormalities. There is evidence of a superactive PP-ribose-P synthetase, normal purine salvage enzymes, and severe depletion of nicotinamide adenine dinucleotide and guanine triphosphate in red cells.

Topics: Deafness; Erythrocytes; Female; Guanosine Triphosphate; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; NAD; Purine-Pyrimidine Metabolism, Inborn Errors; Ribose-Phosphate Pyrophosphokinase; Syndrome; Uric Acid; X Chromosome

1985