Results 81 to 90 of about 6,373 (223)
Étude démographique et généalogique de deux maladies héréditaires au Saguenay [PDF]
, 1984 La population du Saguenay est depuis longtemps reconnue pour l’ampleur des problèmes génétiques auxquels elle fait face. S’agissant en particulier de maladies récessives comme la tyrosinémie, l’ataxie de Friedreich (forme Charlevoix-Saguenay), le ...
Bergeron, Lise +7 more
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Molecular Genetics and Metabolism Reports, 2019 Palmoplantar keratoderma (PPK) is a defect in cornification that is characterized by progressive hyperkeratosis of palms and soles. Many phenotypes are linked with PPK, making exome-based diagnosis increasingly efficient.
Fady Hannah-Shmouni +5 more
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Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype [PDF]
, 2013 We demonstrate CRISPR-Cas9–mediated correction of a Fah mutation in hepatocytes in a mouse model of the human disease hereditary tyrosinemia. Delivery of components of the CRISPR-Cas9 system by hydrodynamic injection resulted in initial expression of the
Anderson, Daniel Griffith +9 more
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Armaghane Danesh Bimonthly Journal, 2019 Background & aim: Tyrosinemia is a recessive autosomal genetic disease due to the defect of fumaril acetoacetate hydrolase (FAH). About 40 pathogenic mutations have been reported for this gene.
A Keshtkari +3 more
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, 1979 Human liver transplantation, which was first performed in man in Denver 15 years ago, has finally come of age in the past 2 years. The 1 year survival has improved from 28 per cent to 50 per cent in the recent Denver Second Series.
Koep, LJ, Starzl, TE, Terblanche, J
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Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family
Case Reports in Genetics, 2012 Carrier of tyrosinemia type I was diagnosed by sequencing FAH (fumarylacetoacetate hydrolase) gene. It leads to the identification of heterozygous status for both c.648C>G (p.Ile216Met) and c.1159G>A (p.Gly387Arg) mutations in exons 8 and 13 ...
Jayesh J. Sheth +3 more
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Neurological crisis mimicking acute pancreatitis in tyrosinemia type I
The Turkish Journal of Pediatrics, 1999 Hereditary tyrosinemia results from an inborn error in the final step of tyrosine metabolism. Neurological manifestations have been reported in nearly half of patients during illness to have characteristics of altered consciousness, weakness ...
H S Kalkanoğlu, T Coşkun
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Tirosinemia neonatal Neonatal tyrosinemia
Iatreia, 1995 Mediante la técnica de Udenfriend y Cooper, se midieron los niveles de tirosina en la sangre del cordón de 26 prematuros y 31 niños de término, con el fin de comparar las concentraciones según la edad gestacional y detectar la presencia de la tirosinemia
Rafael J. Manotas Cabarcas +1 more
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CIRROSIS HEPATICA EN LACTANTE: UNA FORMA DE PRESENTACION DE LA TIROSINEMIA
Revista Chilena de Radiología, 2002 Se presentan 2 casos documentados de lactantes portadores de Tirosinemia tipo I (Hepatorenal). Se describen los hallazgos imagenológicos principales de ella en los órganos blanco: Hígado (Cirrosis Hepática) y riñones (Nefromegalia) y se confrontan con ...
Rodolfo Mardones R +2 more
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The Turkish Journal of Pediatrics, 2011 Richner-Hanhart syndrome (tyrosinemia type II) is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine aminotransferase enzyme. We report a 15-year-old female patient with complaints of
Güzin Iskeleli +5 more
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