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Type 1 Tyrosinemia with Hypophosphatemic Rickets; a Case Report
2014Background: Tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. It is caused by a defect in fumarylacetoacetate hydrolase or fumarylacetoacetase (FAH) enzyme, the final enzyme in the tyrosine degradation pathway.
Eshraghi, Peyman +2 more
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Tyrosinemia type 1: an overview of nursing care.
Pediatric nursing, 2014Tyrosinemia type 1 (TT1) is an inherited metabolic disease that can be fatal when not detected early by newborn screening. In the past, children with TT1 had a poor prognosis due to organ failure and neurologic crisis during infancy. Recent improvements in newborn screening have changed the prognosis of affected children. Measurement of succinylacetone
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A patient with urinary succinylacetone‐negative hereditary tyrosinemia type 1
Pediatrics International, 2023Jun Mori +6 more
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S3069 Lifesaving but Tiresome Treatment for Tyrosinemia Type 1
American Journal of Gastroenterology, 2022Moon Ryu +3 more
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Neurologic Crises in Hereditary Tyrosinemia
New England Journal of Medicine, 1990Grant A Mitchell, Serge Melancon
exaly