Tyrosine Transaminase Deficiency Disease

Known as: Tat Deficiencies, TAT DEFICIENCY, Richner Hanhart Syndrome 
Tyrosinemia caused by mutation(s) in the TAT gene, encoding tyrosine aminotransferase. The inheritance is autosomal recessive.
National Institutes of Health

Papers overview

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2014
2014
BACKGROUND Ataxia Teleangiectasia [AT] is a rare neurodegenerative disease characterized by early onset ataxia, oculocutaneous… (More)
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2008
2008
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar ataxia and oculocutaneous… (More)
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2007
2007
Urine metabolic profiles of patients with inborn errors of metabolism were examined with nuclear magnetic resonance (NMR) and… (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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2003
2003
Despite aggressive treatment with conventional therapy, sarcoidosis may be progressive and debilitating. Tumor necrosis factor… (More)
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Review
2000
Review
2000
Newly synthesized melanosomal proteins, like many other cellular proteins, traverse through a series of intracellular… (More)
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1998
1998
Inherited mutations in the ATM gene lead to a complex clinical phenotype characterized by neuronal degeneration, oculocutaneous… (More)
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Highly Cited
1997
Highly Cited
1997
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by growth retardation, cerebellar ataxia… (More)
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1996
1996
Ataxia-telangiectasia (A-T) is a multisystem recessive disease characterized clinically by cerebellar ataxia, oculocutaneous… (More)
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1976
1976
ATAXIA telangiectasia (AT) (Louis–Bar syndrome) is a rare human neurovascular disease displaying an autosomal recessive pattern… (More)
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