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Hyperphenylalaninemias and Tyrosinemias
Clinics in Perinatology, 1976Discussion of the hyperphenylalaninemias include aspects such as incidence, inheritance, biochemical and clinical features, detection, differential diagnosis, treatment, and genetic counseling. Symptoms and treatment of neonatal tyrosinemia are also elucidated.
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Acta Paediatrica, 1969
SummaryThe clinical and biochemical findings in the case of an infant with hereditary tyrosinemia followed from birth have been reported. The child received a low protein diet from birth and a formula diet restricted in phenylalanine and tyrosine when the diagnosis was established at 54 days of age.
GÖRAN BODEGÅRD +4 more
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SummaryThe clinical and biochemical findings in the case of an infant with hereditary tyrosinemia followed from birth have been reported. The child received a low protein diet from birth and a formula diet restricted in phenylalanine and tyrosine when the diagnosis was established at 54 days of age.
GÖRAN BODEGÅRD +4 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2006
AbstractThe genetic tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. The most severe form of tyrosinemia, Type I, is a devastating disorder of childhood that causes liver failure, painful neurologic crises, rickets, and hepatocarcinoma.
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AbstractThe genetic tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. The most severe form of tyrosinemia, Type I, is a devastating disorder of childhood that causes liver failure, painful neurologic crises, rickets, and hepatocarcinoma.
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NONTRANSPLANT TREATMENT OF TYROSINEMIA
Clinics in Liver Disease, 2000NTBC treatment has greatly improved the survival of patients with acute tyrosinemia and has reduced the need for liver transplantation during early childhood. In patients in whom treatment with NTBC was started early in life, 2 cases (1%) of HCC have occurred during the first year of treatment, but no further cases have occurred among these patients ...
E, Holme, S, Lindstedt
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Tyrosinemia: The Quebec experience
Early Human Development, 1997Tyrosinemia, a genetic disorder of the liver and kidneys, is caused by reduced activity of fumarylacetoacetate hydrolase (FAH), the final enzyme in the degradation of tyrosine. The consequent presence of succinylacetone in urine or blood is pathognomonic of tyrosinemia and is used as a confirmatory test in the Quebec neonaral screening program.
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CRISPR/Cas9-Mediated Gene Correction in Newborn Rabbits with Hereditary Tyrosinemia Type I
Molecular Therapy, 2021Nan Li, Hui Shi, Liangxue Lai
exaly