Literature DB >> 8898576

Homocystinuria.

D M Isherwood.   

Abstract

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Year:  1996        PMID： 8898576      PMCID： PMC2352364          DOI： 10.1136/bmj.313.7064.1025

Source DB:  PubMed          Journal:  BMJ        ISSN： 0959-8138


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  16 in total

1.  HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.

Authors:  R N SCHIMKE; V A MCKUSICK; T HUANG; A D POLLACK
Journal:  JAMA       Date:  1965-08-30       Impact factor: 56.272

2.  Delayed diagnosis of homocystinuria in a myopic.

Authors:  C Capoferri; C Besana
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1991       Impact factor: 3.117

3.  Ocular manifestations in the Marfan syndrome and homocystinuria.

Authors:  H E Cross; A D Jensen
Journal:  Am J Ophthalmol       Date:  1973-03       Impact factor: 5.258

4.  Combined vitamin responsiveness in homocystinuria.

Authors:  G Morrow; L A Barness
Journal:  J Pediatr       Date:  1972-11       Impact factor: 4.406

5.  A closer look at the eye in homocystinuria: a screened population.

Authors:  J P Burke; M O'Keefe; R Bowell; E R Naughten
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

6.  Homocystinemia. Vascular injury and arterial thrombosis.

Authors:  L A Harker; S J Slichter; C R Scott; R Ross
Journal:  N Engl J Med       Date:  1974-09-12       Impact factor: 91.245

7.  No sensory neuropathy during pyridoxine treatment in homocystinuria.

Authors:  C Mpofu; S M Alani; C Whitehouse; B Fowler; J E Wraith
Journal:  Arch Dis Child       Date:  1991-09       Impact factor: 3.791

8.  The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Authors:  S H Mudd; F Skovby; H L Levy; K D Pettigrew; B Wilcken; R E Pyeritz; G Andria; G H Boers; I L Bromberg; R Cerone
Journal:  Am J Hum Genet       Date:  1985-01       Impact factor: 11.025

9.  The effect of oral betaine on vertebral body bone density in pyridoxine-non-responsive homocystinuria.

Authors:  W A Gahl; I Bernardini; S Chen; D Kurtz; K Horvath
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

10.  Changing incidence of neonatal hypermethioninaemia: implications for the detection of homocystinuria.

Authors:  P D Whiteman; B E Clayton; R S Ersser; P Lilly; J W Seakins
Journal:  Arch Dis Child       Date:  1979-08       Impact factor: 3.791
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  1 in total

1.  Betaine anhydrous in homocystinuria: results from the RoCH registry.

Authors:  Vassili Valayannopoulos; Manuel Schiff; Nathalie Guffon; Yann Nadjar; Angels García-Cazorla; Mercedes Martinez-Pardo Casanova; Aline Cano; Maria L Couce; Jaime Dalmau; Luis Peña-Quintana; Vincent Rigalleau; Guy Touati; Luis Aldamiz-Echevarria; Pascal Cathebras; Didier Eyer; Dominique Brunet; Léna Damaj; Dries Dobbelaere; Claire Gay; Sylvie Hiéronimus; Virginie Levrat; François Maillot
Journal:  Orphanet J Rare Dis       Date:  2019-03-14       Impact factor: 4.123
  1 in total

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