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  • oculocutaneous tyrosinemia
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  • tyrosinemia
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  • tyrosinemia
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  • transient tyrosinemia of newborn
  • yhepatorneal tyrosinemia
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  • tyrosinemia I
    ŸÀ̷νÅÇ÷Áõ(úìñø) I
  • tyrosinemia II
    ŸÀ̷νÅÇ÷Áõ(úìñø) II
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HT Hashimoto thyroiditis; hearing test; hearing threshold; heart; heart transplantation, heart transpla...
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HT1 Hereditary Tyrosinemia Type I
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  • Tyrosinemias - »õâ A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features mental retardation, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features mental retardation and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
    Synonyms : 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease, Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase, Deficiency Disease, Fumarylacetoacetase, Deficiency Disease, Tyrosine Transaminase, Hereditary Tyrosinemia, Type I, Hypertyrosinemia, Type I
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tyrosinemia autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
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tyrosinemia autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
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