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Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1
2017Inborn errors of metabolism (IEMs) are a group of diseases involving a genetic defect that alters a metabolic pathway and that presents usually during infancy. The tyrosine degradation pathway contains five enzymes, four of which being associated with IEMs.
Geneviève, Morrow, Robert M, Tanguay
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Decreased mitochondrial oxidative capacity in hereditary tyrosinemia type 1
Scandinavian Journal of Gastroenterology, 2005A case of decreased mitochondrial oxidative capacity in a child with hereditary tyrosinemia type 1 is herein ...
Rigante D. +3 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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CRISPR/Cas9-Mediated Gene Correction in Newborn Rabbits with Hereditary Tyrosinemia Type I
Molecular Therapy, 2021Nan Li, Hui Shi, Liangxue Lai
exaly
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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Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III
Biomedicine and Pharmacotherapy, 2009Mauro Celli
exaly
Re: Comment on pancreatitis in type 1 tyrosinemia
2019[No abstract available]
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