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Tyrosine Transaminase Deficiency Disease
Known as:
Tat Deficiencies
, TAT DEFICIENCY
, Richner Hanhart Syndrome
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Tyrosinemia caused by mutation(s) in the TAT gene, encoding tyrosine aminotransferase. The inheritance is autosomal recessive.
National Institutes of Health
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6 relations
Metabolic disorder being monitored:Prid:Pt:Bld.dot:Nom
TAT gene
TAT, IVS2AS, A-G, -5
TYROSINE AMINOTRANSFERASE
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Broader (1)
Tyrosinemias
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2001
Highly Cited
2001
Tyrosinemia type II: nine cases of ocular signs and symptoms.
M. Macsai
,
T. Schwartz
,
D. Hinkle
,
M. Hummel
,
M. Mulhern
,
D. Rootman
American journal of ophthalmology-glaucoma
2001
Corpus ID: 38031404
Review
1995
Review
1995
Painful keratoderma and photophobia: hallmarks of tyrosinemia type II.
L. Rabinowitz
,
L. R. Williams
,
C. E. Anderson
,
A. Mazur
,
P. Kaplan
Jornal de Pediatria
1995
Corpus ID: 39958126
Review
1995
Review
1995
Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review.
A. Al-Hemidan
,
S. Al-hazzaa
Ophthalmic Genetics
1995
Corpus ID: 39356533
Richner-Hanhart syndrome (Tyrosinemia Type II) is an autosomal recessive disorder of amino acid metabolism characterized by…
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1986
1986
Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia
A. Fois
,
P. Borgogni
,
+17 authors
M. Battini
Journal of Inherited Metabolic Disease
1986
Corpus ID: 44275859
ConclusionsType II tyrosinaemia in Italy has no regional preponderance. Neuromotor retardation and/or microcephaly seem to be…
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1984
1984
Ocular melanin pigmentation anomalies in cats, cattle, mink, and mice with Chediak-Higashi syndrome: histologic observations.
L. L. Collier
,
D. Prieur
,
E. King
Current Eye Research
1984
Corpus ID: 28281647
The Chediak-Higashi syndrome (CHS) is a hereditary disorder of man, with the homologous condition reported in five animal species…
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1982
1982
Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome.
H. M. Hittner
,
Richard A. King
,
+4 authors
Frank L. Kretzer
American journal of ophthalmology-glaucoma
1982
Corpus ID: 24333563
1981
1981
Richner‐Hanhart syndrome (tyrosinaemia‐II) (report of four cases without ocular involvement)
Á. Rehák
,
M. M. Selim
,
G. Yadav
British Journal of Dermatology
1981
Corpus ID: 45390793
Four cases of tyrosinaemia with cutaneous manifestations, but without ocular involvement, are reported in a family with…
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Highly Cited
1976
Highly Cited
1976
Defective excision repair of γ-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts
M. C. Paterson
,
B. P. Smith
,
P. Lohman
,
A. K. Anderson
,
L. Fishman
Nature
1976
Corpus ID: 4167330
ATAXIA telangiectasia (AT) (Louis–Bar syndrome) is a rare human neurovascular disease displaying an autosomal recessive pattern…
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1972
1972
Oculocutaneous melanosis associated with the Sturge‐Weber syndrome
Angel Noriega-Sanchez
,
O. Markand
,
J. Herndon
Neurology
1972
Corpus ID: 43069777
THE STUHGE-T'\'EBER SWJDROME, 01 encephalotrigeminal angiomatosis, is characterized by a port-wine stain, or newis flammeus, of…
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Highly Cited
1971
Highly Cited
1971
Metabolic Studies in a Patient with Hepatic Cytosol Tyrosine Aminotransferase Deficiency
N. Kennaway
,
N. Buist
Pediatric Research
1971
Corpus ID: 33704029
Extract: Metabolic studies on a patient having multiple congenital anomalies and defective hepatic soluble tyrosine…
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