Results 31 to 40 of about 4,798 (243)
Diagnostic pitfalls in neonatal hypertyrosinemia: a case report
Life Sciences, Medicine and Biomedicine, 2023 Hypertyrosinemia results from abnormality in tyrosine metabolism. Acquired hypertyrosinemia is notably more common than inherited types and typically presents with profile suggestive of secondary aetiology on biochemical testing.
Karniza Khalid +5 more
doaj +1 more source
The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives. [PDF]
J Inherit Metab DisABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Pietrobattista A +3 more
europepmc +2 more sources
Markers of cognitive function in individuals with metabolic disease: Morquio Syndrome and Tyrosinemia Type III [PDF]
, 2018 We characterized cognitive function in two metabolic diseases. MPS–IVa (mucopolysaccharidosis IVa, Morquio) and tyrosinemia type III individuals were assessed using tasks of attention, language and oculomotor function.
Blundell, James +8 more
core +3 more sources
A Novel Genetic Screen Identifies Modifiers of Age-Dependent Amyloid β Toxicity in the Drosophila Brain [PDF]
, 2017 The accumulation of amyloid β peptide (Aβ) in the brain of Alzheimer's disease (AD) patients begins many years before clinical onset. Such process has been proposed to be pathogenic through the toxicity of Aβ soluble oligomers leading to synaptic ...
Belfiori Carrasco, Lautaro Francisco +5 more
core +1 more source
The nephropathy of type I tyrosinemia after liver transplantation [PDF]
Pediatric Nephrology, 1995 Type I tyrosinemia (HTI) is an autosomally recessively inherited disease caused by deficiency of fumarylacetoacetate hydrolase. The disease manifests with liver failure, renal tubular defects, and neurologic crises. Currently orthotopic liver transplantation (OLT) enables patients to survive.
J, Laine +5 more
openaire +2 more sources
5-Aminolevulinic acid: A matter of life and caveats
Journal of Photochemistry and Photobiology, 2021 Our mini-review concerns the potential adverse pro-oxidant role of 5-aminolevulinic (ALA), the first protoporphyrin IX (PP-IX)/heme precursor widely used in commercial formulations for endogenous photodynamic therapy (PDT).
Etelvino J.H. Bechara +2 more
doaj +1 more source
Liver transplantation for biliary atresia [PDF]
, 1984 Orthotopic liver transplantation was performed 15 months to 20 years ago in 126 recipients, all of whom were under 18 years of age. Eighty-six of these pediatric recipients were treated before 1980 with azathioprine (or eyclophosphamide) and prednisone ...
B.W. Shaw Jr. +12 more
core +4 more sources
Targeting the Apoa1 locus for liver-directed gene therapy
Molecular Therapy: Methods & Clinical Development, 2021 Clinical application of somatic genome editing requires therapeutics that are generalizable to a broad range of patients. Targeted insertion of promoterless transgenes can ensure that edits are permanent and broadly applicable while minimizing risks of ...
Marco De Giorgi +11 more
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2023 DNA transposon-based gene delivery vectors represent a promising new branch of randomly integrating vector development for gene therapy. For the side-by-side evaluation of the piggyBac and Sleeping Beauty systems—the only DNA transposons currently ...
Gergely Imre +25 more
doaj +1 more source
Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]
, 1992 __Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim) +1 more
core +2 more sources