Literature DB >> 3290483

The eye and inherited metabolic disease: a review.

A Michalski1, J V Leonard, D S Taylor.   

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Year:  1988        PMID： 3290483      PMCID： PMC1291590          DOI： 10.1177/014107688808100517

Source DB:  PubMed          Journal:  J R Soc Med        ISSN： 0141-0768            Impact factor:   5.344


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  21 in total

Review 1.  Keratopathy in tyrosinemia.

Authors:  R P Burns; I K Gipson; M J Murray
Journal:  Birth Defects Orig Artic Ser       Date:  1976

2.  Soluble tyrosine aminotransferase deficiency: an unusual cause of corneal ulcers.

Authors:  R P Burns
Journal:  Am J Ophthalmol       Date:  1972-03       Impact factor: 5.258

3.  Raised plasma-ornithine and gyrate atrophy of the choroid and retina.

Authors:  O Simell; K Takki
Journal:  Lancet       Date:  1973-05-12       Impact factor: 79.321

4.  Differential diagnosis between the primary total choroidal vascular atrophies.

Authors:  K Takki
Journal:  Br J Ophthalmol       Date:  1974-01       Impact factor: 4.638

5.  Long-term management of abetalipoproteinaemia. Possible role for vitamin E.

Authors:  D P Muller; J K Lloyd; A C Bird
Journal:  Arch Dis Child       Date:  1977-03       Impact factor: 3.791

6.  Vitamin B6 in management of gyrate atrophy of choroid and retina.

Authors:  R G Weleber; N G Kennaway; N R Buist
Journal:  Lancet       Date:  1978-12-02       Impact factor: 79.321

7.  Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet.

Authors:  D Valle; M Walser; S W Brusilow; M Kaiser-Kupfer
Journal:  J Clin Invest       Date:  1980-02       Impact factor: 14.808

8.  Gyrate atrophy of the choroid and retina with hyperornithinemia.

Authors:  C McCulloch; E B Marliss
Journal:  Am J Ophthalmol       Date:  1975-12       Impact factor: 5.258

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

Authors:  D C Bienfang; T Kuwabara; S M Pueschel
Journal:  Arch Ophthalmol       Date:  1976-07

10.  Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts.

Authors:  A M Lawson; M J Madigan; D Shortland; P T Clayton
Journal:  Clin Chim Acta       Date:  1986-12-15       Impact factor: 3.786
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  3 in total

1.  Retinal haemorrhages in a young patient with homocysteinuria.

Authors:  R A Shah; M A Zarbin; N Bhagat
Journal:  Br J Ophthalmol       Date:  2005-10       Impact factor: 4.638

2.  Ocular complications in homocystinuria--early and late treated.

Authors:  J P Burke; M O'Keefe; R Bowell; E R Naughten
Journal:  Br J Ophthalmol       Date:  1989-06       Impact factor: 4.638

Review 3.  Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

Authors:  Jeffrey M Chinsky; Rani Singh; Can Ficicioglu; Clara D M van Karnebeek; Markus Grompe; Grant Mitchell; Susan E Waisbren; Muge Gucsavas-Calikoglu; Melissa P Wasserstein; Katie Coakley; C Ronald Scott
Journal:  Genet Med       Date:  2017-08-03       Impact factor: 8.822
  3 in total

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