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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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Review
1995
Review
1995
Richner-Hanhart syndrome (Tyrosinemia Type II) is an autosomal recessive disorder of amino acid metabolism characterized by… 
1986
1986
ConclusionsType II tyrosinaemia in Italy has no regional preponderance. Neuromotor retardation and/or microcephaly seem to be… 
1984
1984
The Chediak-Higashi syndrome (CHS) is a hereditary disorder of man, with the homologous condition reported in five animal species… 
1981
1981
Four cases of tyrosinaemia with cutaneous manifestations, but without ocular involvement, are reported in a family with… 
Highly Cited
1976
Highly Cited
1976
ATAXIA telangiectasia (AT) (Louis–Bar syndrome) is a rare human neurovascular disease displaying an autosomal recessive pattern… 
1972
1972
THE STUHGE-T'\'EBER SWJDROME, 01 encephalotrigeminal angiomatosis, is characterized by a port-wine stain, or newis flammeus, of… 
Highly Cited
1971
Highly Cited
1971
Extract: Metabolic studies on a patient having multiple congenital anomalies and defective hepatic soluble tyrosine…