Results 51 to 60 of about 6,373 (223)

Liver transplantation for tyrosinemia. A review of 10 cases from the University of Pittsburgh. [PDF]

open access: yes, 1990
Results of liver transplantation in 10 patients with tyrosinemia are reviewed. The indications for transplantation were: hepatoma in three, acute liver failure in two, and progressive chronic liver disease in five. One patient died during surgery. Of the
Esquivel, CO   +8 more
core  

Inborn errors of metabolism: a clinical overview [PDF]

open access: yes, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

Cyclosporine Absorption Following Orthotopic Liver Transplantation [PDF]

open access: yes, 1986
Blood concentrations of cyclosporine were determined in adult and pediatric patients following orthotopic liver transplantation to quantitate cyclosporine blood clearance and oral absorption.
Beveridge   +20 more
core   +2 more sources

Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components

open access: yesSmall Methods, Volume 10, Issue 2, 22 January 2026.
The review presents a comprehensive overview of each component of lipid nanoparticles(LNPs)and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu   +6 more
wiley   +1 more source

Pediatric liver transplantation from neonatal donors [PDF]

open access: yes, 1992
Sixteen recipients of neonatal liver grafts were compared with 114 contemporaneous pediatric recipients of grafts from older donors. Graft and patient survival were worse in the neonatal group although the differences were not statistically significant ...
Bismuth H   +9 more
core   +1 more source

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

open access: yesInternational Journal of Neonatal Screening, 2020
Tyrosinemia type I (TT1) is an inborn error of tyrosine metabolism with features including liver dysfunction, cirrhosis, and hepatocellular carcinoma; renal dysfunction that may lead to failure to thrive and bone disease; and porphyric crises. Once fatal
Jessica R. C. Priestley   +8 more
doaj   +1 more source

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

open access: yesJournal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro   +22 more
wiley   +1 more source

Food for thought : palatable eponyms from Pediatrics [PDF]

open access: yes, 2014
Food-related medical terms are frequently used in the field of pediatrics for the definition, recognition and diagnosis of disease. Almost 40 food-related medical eponyms used in Pediatrics have been ‘cherry picked’ and described by the authors.
Kipersztok, Lisa, Masukume, Gwinyai
core  

Prognostic value of thyroid hormone levels in patients evaluated for liver transplantation [PDF]

open access: yes, 1985
The thyroid hormones T4, T3, rT3 and TSH were assayed in 134 adult patients evaluated and accepted as potential liver transplant candidates at the Universty of Pittsburgh from March, 1981 to December, 1983.
Carter   +20 more
core   +1 more source

Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia

open access: yesRevista Finlay, 2023
Foundation: hereditary tyrosinemia type I or hepato-renal tyrosinemia is an autosomal recessive disease caused by deficiency of the enzyme fumarylacetoacetate hydrolase. Due to its metabolic complexity, its confirmation requires a set of highly expensive
Iovana Fuentes Cortés   +2 more
doaj  

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