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]
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
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
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
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]
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
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]
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]
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
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
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

