Literature DB >> 4210160

Tay-Sachs' disease and Fabry's disease: clinical and chemical diagnosis of two metabolic eye diseases.

E Cotlier.   

Abstract

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Year:  1974        PMID: 4210160      PMCID: PMC1751167     

Source DB:  PubMed          Journal:  Bull N Y Acad Med        ISSN: 0028-7091


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  19 in total

1.  Metachromatic leucodystrophy.

Authors:  D G Cogan; T Kuwabara; H Moser
Journal:  Ophthalmologica       Date:  1970       Impact factor: 3.250

2.  The genetic mucolipidoses. Diagnosis and differential diagnosis.

Authors:  J W Spranger; H R Wiedemann
Journal:  Humangenetik       Date:  1970

3.  The syndrome of the sea-blue histiocyte.

Authors:  M N Silverstein; R D Ellefson; E J Ahern
Journal:  N Engl J Med       Date:  1970-01-01       Impact factor: 91.245

4.  The sphingolipidoses and the eye.

Authors:  D G Cogan; T Kuwabara
Journal:  Arch Ophthalmol       Date:  1968-04

5.  Fabry's disease: ocular findings in a female carrier. A light and electron microscopy study.

Authors:  T A Weingeist; F C Blodi
Journal:  Arch Ophthalmol       Date:  1971-02

6.  The successful treatment of homocystinuria with pyridoxine.

Authors:  G W Barber; G L Spaeth
Journal:  J Pediatr       Date:  1969-09       Impact factor: 4.406

7.  Fabry's disease. Its ocular manifestations.

Authors:  G L Spaeth; P Frost
Journal:  Arch Ophthalmol       Date:  1965-12

8.  Cataracts in galactosemia. The Jonas S. Friedenwald Memorial Lecture.

Authors:  J H Kinoshita
Journal:  Invest Ophthalmol       Date:  1965-10

9.  Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.

Authors:  J S O'Brien; S Okada; A Chen; D L Fillerup
Journal:  N Engl J Med       Date:  1970-07-02       Impact factor: 91.245

10.  Lactosyl ceramidosis: catabolic enzyme defect of glycosphingolipid metabolism.

Authors:  G Dawson; A O Stein
Journal:  Science       Date:  1970-10-30       Impact factor: 47.728

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