Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: Intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus-Reference-Cited by-同舟云学术

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: Intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus

Published:1992-03 Issue:2 Volume:15 Page:198-203
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Chitayat D.,Balbul A.,Hani V.,Mamer O. A.,Clow C.,Scriver C. R.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01799631

Reference25 articles.

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2. Bonhert A, Anton-Lamprecht I (1982) Richner-Hanhart's syndrome: ultrastructural abnormalities of epidermal keratinization indicating a causal relationship to high intracellular tyrosine levels.J Invest Dermatol 79: 68–74

3. De Marchi S, Cecchin E, Basile A et al (1984) Close genetic linkage between HLA and renal glycosuria.Am J Nephrol 4: 280–286

4. Endo F, Kitano A, Uehara, I et al (1983) 4-Hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: a new variant form of hereditary hypertyrosinemia.Pediatr Res 17: 92–96

5. Fellman JH, Vanbellinghen PJ, Jones RT, Koler RD (1969) Soluble and mitochondrial forms of tyrosine aminotransferase: relationship to human tyrosinemia.Biochemistry 8: 615–622

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