(Q43758835)

26 November 2017

title

Tyrosinemia type II: nine cases of ocular signs and symptoms (English)

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26 November 2017

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Macsai MS

1

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26 November 2017

Schwartz TL

2

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26 November 2017

Hinkle D

3

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26 November 2017

Hummel MB

4

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26 November 2017

Mulhern MG

5

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26 November 2017

Rootman D

6

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26 November 2017

language of work or name

English

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publication date

1 October 2001

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American Journal of Ophthalmology

26 November 2017

published in

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26 November 2017

volume

132

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26 November 2017

issue

4

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26 November 2017

page(s)

522-527

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

26 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901160-6

Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901160-6

Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901160-6

Tyrosinemia with plantar and palmar keratosis and keratitis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901160-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901160-6

Richner-Hanhart's Syndrome: Ultrastructural Abnormalities of Epidermal Keratinization Indicating a Causal Relationship to High Intracellular Tyrosine Levels

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901160-6

Tyrosinaemia type II (Richner-Hanhart syndrome)--report of two cases treated with etretinate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901160-6

The effect of a low-protein diet and dietary supplementation of threonine on tyrosine and 2-(2-nitro-4-trifluoromethylbenzoyl) cyclohexane-1,3-dione-induced corneal lesions, the extent of tyrosinemia, and the activity of enzymes involved in tyrosine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901160-6

Richner-Hanhart syndrome and tyrosinemia type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901160-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901160-6

Outcome in tyrosinaemia type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901160-6

Painful keratoderma and photophobia: hallmarks of tyrosinemia type II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901160-6

Familial tyrosinaemia with eye and skin lesions. Presentation of two cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901160-6

10.1016/S0002-9394(01)01160-6

7 January 2021

Identifiers

DOI

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26 November 2017

1 reference