Results 171 to 180 of about 6,468 (222)
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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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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
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The Enzymatic Deficiency in Tyrosinemia
Archives of Pediatrics & Adolescent Medicine, 1967SOME time ago I reviewed the literature on tyrosinosis to write a chapter on this subject. 1 This required careful restudy of the classic investigations by Dr. Grace Medes in 1927 of a metabolic disorder of tyrosine metabolism, which she named, tyrosinosis.
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TRANSIENT TYROSINEMIA OF THE NEWBORN
Nutrition Reviews, 2009A benign affair, dependent on hepatic immaturity and the dietary protein load.
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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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Case report: ADHD and prognosis in tyrosinemia type 1
Frontiers in Psychiatry, 2023Hélène Barone +2 more
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