Tyrosinemias

Known as: Hereditary Tyrosinemia, tyrosinaemia, Hypertyrosinemia 
A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia… (More)
National Institutes of Health

Papers overview

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Highly Cited
2014
Highly Cited
2014
We demonstrate CRISPR-Cas9–mediated correction of a Fah mutation in hepatocytes in a mouse model of the human disease hereditary… (More)
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Highly Cited
2008
Highly Cited
2008
Transplanted bone marrow-derived cells (BMDCs) have been reported to fuse with cells of diverse tissues, but the extremely low… (More)
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Highly Cited
2007
Highly Cited
2007
Newborn screening in North America dates to the early work of Bob Guthrie in the USA. Screening programmes in both the USA and… (More)
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2007
2007
The continued expansion of newborn screening programmes to include additional conditions increases the responsibility of newborn… (More)
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Review
2006
Review
2006
The genetic tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. The most severe form of… (More)
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Highly Cited
2003
Highly Cited
2003
Results from several experimental systems suggest that cells from one tissue type can form other tissue types after… (More)
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Highly Cited
2001
Highly Cited
2001
This paper reports clinical and metabolic studies of two Italian siblings with a novel form of persistent isolated… (More)
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Highly Cited
2000
Highly Cited
2000
The characterization of hepatic progenitor cells is of great scientific and clinical interest. Here we report that intravenous… (More)
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Review
2000
Review
2000
NTBC treatment has greatly improved the survival of patients with acute tyrosinemia and has reduced the need for liver… (More)
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1990
1990
Mutant mice exhibiting heritable hyperphenylalaninemia have been isolated after ethylnitrosourea mutagenesis of the germ line. We… (More)
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