Results 121 to 130 of about 326 (172)
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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.
C Ronald Scott
exaly +3 more sources
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.
C Ronald Scott
exaly +3 more sources
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.
exaly +3 more sources
Acta Pathologica Japonica, 1979
A case of tyrosinemia in a three‐month‐old boy is presented. The patient appeared jaundiced initially with markedly elevated levels of serum tyrosine and a positive Millon‐reacting urine. Jaundice persisted and hepatospleno‐megaly gradually increased. He died due to liver failure on the 51st day after admission.
Y, Shinohara +5 more
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A case of tyrosinemia in a three‐month‐old boy is presented. The patient appeared jaundiced initially with markedly elevated levels of serum tyrosine and a positive Millon‐reacting urine. Jaundice persisted and hepatospleno‐megaly gradually increased. He died due to liver failure on the 51st day after admission.
Y, Shinohara +5 more
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Pediatric and Developmental Pathology, 2001
Hypertyrosinemia encompasses several entities, of which tyrosinemia type I (or hepatorenal tyrosinemia, HT1) results in the most extensive clinical and pathological manifestations involving mainly the liver, kidney, and peripheral nerves. The clinical findings range from a severe hepatopathy of early infancy to chronic liver disease and rickets in the
P A, Russo, G A, Mitchell, R M, Tanguay
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Hypertyrosinemia encompasses several entities, of which tyrosinemia type I (or hepatorenal tyrosinemia, HT1) results in the most extensive clinical and pathological manifestations involving mainly the liver, kidney, and peripheral nerves. The clinical findings range from a severe hepatopathy of early infancy to chronic liver disease and rickets in the
P A, Russo, G A, Mitchell, R M, Tanguay
openaire +2 more sources
2017
Abstract This chapter discusses tyrosinemia, including the biochemical and clinical abnormalities associated with tyrosinemia type I, tyrosinemia type II, tyrosinemia type III, hawkinsinuria, and alkaptonuria. Factors to be considered in nutritional intervention, such as energy requirements, a diet low in phenylalanine and tyrosine, and ...
Francjan van Spronsen, Margreet van Rijn
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Abstract This chapter discusses tyrosinemia, including the biochemical and clinical abnormalities associated with tyrosinemia type I, tyrosinemia type II, tyrosinemia type III, hawkinsinuria, and alkaptonuria. Factors to be considered in nutritional intervention, such as energy requirements, a diet low in phenylalanine and tyrosine, and ...
Francjan van Spronsen, Margreet van Rijn
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Tyrosinemia and Intractable Seizures
Epilepsia, 1984Summary:A child with intractable seizures from the age of 10 months and developmental retardation developed jaundice and hepatosplenomegaly at 23 months. She died at the age of 25 months. Methionine and tyrosine were elevated in urine, plasma, CSF, and brain. These elevations were more marked in the CNS than in the blood.
S S, Seshia +3 more
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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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2005
Abstract In 1932 the term tyrosinemia was first used to describe a single patient with constant urinary excretion of large quantities of tyrosine and the tyrosine metabolites, p-hydroxy phenyllactic (p-HPLA) and p-hydroxy phenylpyruvic acids (p-HPPA),1 which together are called tyrosyluria.
Rebecca Roberts +3 more
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Abstract In 1932 the term tyrosinemia was first used to describe a single patient with constant urinary excretion of large quantities of tyrosine and the tyrosine metabolites, p-hydroxy phenyllactic (p-HPLA) and p-hydroxy phenylpyruvic acids (p-HPPA),1 which together are called tyrosyluria.
Rebecca Roberts +3 more
openaire +1 more source