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

Related topics

Related topics

5 relations
Metabolic disorder being monitored:Prid:Pt:Bld.dot:NomTAT geneTYROSINE AMINOTRANSFERASETyrosinemia, Type III

Broader (1)

Tyrosinemias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial
BACKGROUND Ataxia Teleangiectasia [AT] is a rare neurodegenerative disease characterized by early onset ataxia, oculocutaneous… (More)
  • figure 1
  • table 1
  • table 2
  • table 3
  • table 4
Is this relevant?
2008
2008
ATM protein kinase mediates full activation of Akt and regulates glucose transporter 4 translocation by insulin in muscle cells.
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar ataxia and oculocutaneous… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
2007
2007
Principal component analysis of urine metabolites detected by NMR and DESI-MS in patients with inborn errors of metabolism.
Urine metabolic profiles of patients with inborn errors of metabolism were examined with nuclear magnetic resonance (NMR) and… (More)
Is this relevant?
Review
2006
Review
2006
The genetic tyrosinemias.
The genetic tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. The most severe form of… (More)
Is this relevant?
2003
2003
Refractory sarcoidosis responding to infliximab.
Despite aggressive treatment with conventional therapy, sarcoidosis may be progressive and debilitating. Tumor necrosis factor… (More)
Is this relevant?
Review
2000
Review
2000
Sorting and targeting of melanosomal membrane proteins: signals, pathways, and mechanisms.
Newly synthesized melanosomal proteins, like many other cellular proteins, traverse through a series of intracellular… (More)
Is this relevant?
1998
1998
ATM binds to beta-adaptin in cytoplasmic vesicles.
Inherited mutations in the ATM gene lead to a complex clinical phenotype characterized by neuronal degeneration, oculocutaneous… (More)
Is this relevant?
Highly Cited
1997
Highly Cited
1997
Loss of p21 increases sensitivity to ionizing radiation and delays the onset of lymphoma in atm-deficient mice.
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by growth retardation, cerebellar ataxia… (More)
  • figure 1
  • figure 2
  • figure 4
  • figure 3
  • figure 5
Is this relevant?
1996
1996
ATM mutations in cancer families.
Ataxia-telangiectasia (A-T) is a multisystem recessive disease characterized clinically by cerebellar ataxia, oculocutaneous… (More)
Is this relevant?
1976
1976
Defective excision repair of γ-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts
ATAXIA telangiectasia (AT) (Louis–Bar syndrome) is a rare human neurovascular disease displaying an autosomal recessive pattern… (More)
Is this relevant?