A CASE REPORT OF HEREDITARY TYROSINEMIA TYPE 1

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RAFIEI M.; JAFARI ROUHI A.H.; ASGHARI KALEIBAR N.

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Journal Paper

Paper Information

Journal: MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES Year:2005 | Volume:27 | Issue:1 Page(s): 73-76

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Title

A CASE REPORT OF HEREDITARY TYROSINEMIA TYPE 1

Author(s)

RAFIEI M. | JAFARI ROUHI A.H. | ASGHARI KALEIBAR N. | Issue Writer Certificate

Keywords

TYROSINEMIAQ4

NTBCQ4

Abstract

Thyrosinemia type 1 is an autosomal recessive inherited disorder caused by deficient fumarylacetoacetate activity. Treatment with 2-(2-nitr-4-trifluro-methylbenzoyl)-1,3-cyclohexanedion (NTBC) an inhibitor of 4- hydroxyphenylpyruvate dioxygenase, has successfully been applied for the last few years. In this paper one patient with the diagnosis of TYROSINEMIA type1 has been treated with NTBC and restricted diet. Within five years follow up, patient’s signs and symptoms alleviated and no evidence of hepatocellular carcinoma developed and the patient’s growth and development were normal. This drug was as effective as showed in similar studies. The needed amount of NTBC for this patient to live normally is provided through a Franch company with difficulties. The patient’s life depends on continuous availability of this drug.

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APA: Copy

RAFIEI, M., JAFARI ROUHI, A.H., & ASGHARI KALEIBAR, N.. (2005). A CASE REPORT OF HEREDITARY TYROSINEMIA TYPE 1. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, 27(1), 73-76. SID. https://sid.ir/paper/46503/en

Vancouver: Copy

RAFIEI M., JAFARI ROUHI A.H., ASGHARI KALEIBAR N.. A CASE REPORT OF HEREDITARY TYROSINEMIA TYPE 1. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2005;27(1):73-76. Available from: https://sid.ir/paper/46503/en

IEEE: Copy

M. RAFIEI, A.H. JAFARI ROUHI, and N. ASGHARI KALEIBAR, “A CASE REPORT OF HEREDITARY TYROSINEMIA TYPE 1,” MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, vol. 27, no. 1, pp. 73–76, 2005, [Online]. Available: https://sid.ir/paper/46503/en

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