Results 161 to 170 of about 6,373 (223)

A novel <i>SLC44A</i> gene variant in a patient with neonatal cholestasis and liver failure. [PDF]

open access: yesMol Genet Metab Rep
Barut D   +5 more
europepmc   +1 more source

Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children. [PDF]

open access: yesClin Med Insights Pediatr
Khan SA   +5 more
europepmc   +1 more source

Transient tyrosinemia of the newborn

open access: yesThe Turkish Journal of Pediatrics, 1978
A Hasanoğlu, I Ozalp
doaj  

TYROSINEMIA

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
openaire   +2 more sources

Tyrosinemia

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
openaire   +2 more sources

Tyrosinemia: A Review

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
openaire   +2 more sources

Tyrosinemia

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
openaire   +1 more source

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