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Items: 17

1.

Pregnancy and tyrosinaemia type II.

Cerone R, Fantasia AR, Castellano E, Moresco L, Schiaffino MC, Gatti R.

J Inherit Metab Dis. 2002 Aug;25(4):317-8.

PMID:
12227462
2.

Richner-Hanhart syndrome: importance of early diagnosis and early intervention.

Tallab TM.

J Am Acad Dermatol. 1996 Nov;35(5 Pt 2):857-9.

PMID:
8912606
3.

Richner-Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement).

Rehák A, Selim MM, Yadav G.

Br J Dermatol. 1981 Apr;104(4):469-75.

PMID:
6453606
4.

Richner-Hanhart syndrome and tyrosinemia type II.

Hunziker N.

Dermatologica. 1980;160(3):180-9.

PMID:
6446465
6.

[Keratoma palmoplantar dissipatum associated with corneal lesions in 2 siblings].

Ventura G, Biasini G, Petrozzi M.

Boll Ocul. 1965 Jul;44(7):497-510. Italian. No abstract available.

PMID:
5880823
7.

Soluble and mitochondrial forms of tyrosine aminotransferase. Relationship to human tyrosinemia.

Fellman JH, Vanbellinghen PJ, Jones RT, Koler RD.

Biochemistry. 1969 Feb;8(2):615-22. No abstract available.

PMID:
4389443
8.

Tyrosinemia with plantar and palmar keratosis and keratitis.

Goldsmith LA, Kang E, Bienfang DC, Jimbow K, Gerald P, Baden HP.

J Pediatr. 1973 Nov;83(5):798-805. No abstract available.

PMID:
4270265
9.

Richner-Hanhart syndrome spares a plantar autograft.

Crovato F, Desirello G, Gatti R, Babbini N, Rebora A.

Arch Dermatol. 1985 Apr;121(4):539-40.

PMID:
3156564
10.

Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1----q22.3 in a patient with tyrosinemia type II.

Natt E, Westphal EM, Toth-Fejel SE, Magenis RE, Buist NR, Rettenmeier R, Scherer G.

Hum Genet. 1987 Dec;77(4):352-8.

PMID:
2891604
11.

Assignment of the human tyrosine aminotransferase gene to chromosome 16.

Natt E, Kao FT, Rettenmeier R, Scherer G.

Hum Genet. 1986 Mar;72(3):225-8.

PMID:
2870018
12.
13.

Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.

Natt E, Kida K, Odievre M, Di Rocco M, Scherer G.

Proc Natl Acad Sci U S A. 1992 Oct 1;89(19):9297-301.

14.
15.

The Richner-Hanhart syndrome: report of a case with associated tyrosinemia.

Bienfang DC, Kuwabara T, Pueschel SM.

Arch Ophthalmol. 1976 Jul;94(7):1133-7.

PMID:
180943
16.

Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II).

Pelet B, Antener I, Faggioni R, Spahr A, Gautier E.

Helv Paediatr Acta. 1979 May;34(2):177-83.

PMID:
156708
17.

Oculocutaneous tyrosinosis. Report of two cases in the same family.

Garibaldi LR, Siliato F, de Martini I, Scarsi MR, Romano C.

Helv Paediatr Acta. 1977 Jul;32(2):173-80.

PMID:
33934

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