Literature DB >> 6434875

Sorbitol dehydrogenase deficiency in a family with congenital cataracts.

Y S Shin, M Rieth, W Endres, P Haas.   

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Year:  1984        PMID： 6434875     DOI： 10.1007/978-94-009-5612-4_50

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

Review 1.  Inherited metabolic diseases affecting the carrier.

Authors:  W Endres
Journal:  J Inherit Metab Dis       Date:  1997-03       Impact factor: 4.982

Review 2.  Cataract and metabolic disease.

Authors:  W Endres; Y S Shin
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Plasma polyol levels in patients with cataract.

Authors:  C Jakobs; A C Douwes; M Brockstedt; F Stellaard; W Endres; Y S Shin
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  Lens sorbitol dehydrogenase deficiency in a patient with congenital cataract.

Authors:  V Vetter; Y S Shin
Journal:  Eur J Pediatr       Date:  1995-05       Impact factor: 3.183

5.  Membrane-bound sorbitol dehydrogenase in human red blood cells. Studies in normal subjects and in enzyme-deficient subjects with congenital cataracts.

Authors:  A Alvarez; A Martínez; B Ibarra; C Medina; M Bracamontes; J Perea; G Vaca
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  Inverted low-copy repeats and genome instability--a genome-wide analysis.

Authors:  Piotr Dittwald; Tomasz Gambin; Claudia Gonzaga-Jauregui; Claudia M B Carvalho; James R Lupski; Paweł Stankiewicz; Anna Gambin
Journal:  Hum Mutat       Date:  2012-10-11       Impact factor: 4.878

7.  Early manifestation of cataract in a child heterozygous for classical galactosaemia and with diabetes mellitus type I: increased plasma mannitol concentration in cataract patients.

Authors:  Y S Shin; K Reiter; A Urban; B Lorenz; W Kiess
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
  7 in total

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