Results 21 to 30 of about 6,373 (223)

A Novel Genetic Screen Identifies Modifiers of Age-Dependent Amyloid β Toxicity in the Drosophila Brain [PDF]

open access: yes, 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

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

open access: yesBalkan Medical Journal, 2016
Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase.
Habibe Koç Uçar   +4 more
doaj   +1 more source

Tyrosinemia in a toddler, a case report

open access: yesAnnals of Hepatology, 2022
Introduction and Objectives: This study aimed to present the case of a toddler with acute-on chronic liver failure probably related to tyrosinemia. Case Summary: a two-year four-month-old male infant presented with gastroenteritis, which three days later
GA Gómez Vidrio   +4 more
doaj   +1 more source

Antibodies towards Tyrosine Amyloid-Like Fibrils Allow Toxicity Modulation and Cellular Imaging of the Assemblies

open access: yesMolecules, 2018
The amino acid tyrosine forms cytotoxic amyloid-like fibrils by molecular self-assembly. However, the production of antibodies towards tyrosine assemblies, reflecting their presentation to the immune system, was not demonstrated yet.
Dor Zaguri   +3 more
doaj   +1 more source

Homotransplantation of the liver in a patientwith hepatoma and hereditary tyrosinemia [PDF]

open access: yes, 1978
A girl with hereditary tyrosinemia, diagnosed at 6 months of age, was treated with a diet restricted inphenylalanine and tyrosine. At 91/2 years of age she developed an acutely enlarged liver and spleen, and the diagnosis of hepatocarcinoma was made. The
Arnold Silverman   +34 more
core   +1 more source

Diagnostic pitfalls in neonatal hypertyrosinemia: a case report

open access: yesLife 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

Liver transplantation for biliary atresia [PDF]

open access: yes, 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

Fifteen years of clinical liver transplantation [PDF]

open access: yes, 1979
Liver transplantation in humans was first attempted more than 15 yr ago. The 1-yr survival has slowly improved until it has now reached about 50%. In our experience, 46 patients have lived for at least 1 yr, with the longest survival being 9 yr. The high
Abouna   +65 more
core   +1 more source

Peripheral Neuropathy and Hereditary Tyrosinemia

open access: yesPediatric Neurology Briefs, 1990
Neurologic crises in 48 children with tyrosinemia identified on neonatal screening since 1970 are described from the Departments of Genetics, Hopital Sainte Justine, Hopital de Chicoutimi; and Universite Laval, Quebec, Canada.
J Gordon Millichap
doaj   +1 more source

Tyrosinemia type 1 and ADHD like symptoms similarity or comorbidity about a case

open access: yesEuropean Psychiatry, 2023
Introduction Many metabolic diseases influence brain function and are associated with psychiatric symptoms and neuropsychiatric disorders (including autism-spectrum disorders, ADHD and psychotic disorders).
H. Belhadga, Z. Elmaataoui, H. Kisra
doaj   +1 more source

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