Literature DB >> 8404970

Molybdenum cofactor deficiency in two siblings: diagnostic difficulties.

L K Hansen1, K Wulff, C Dorche, E Christensen.   

Abstract

Two siblings with molybdenum cofactor deficiency are presented. They showed clinical, biochemical and neuroradiological features very similar to those of the few previously described cases. Difficulties in diagnosis are emphasised.

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Year:  1993        PMID： 8404970     DOI： 10.1007/bf01955243

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  11 in total

1.  Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?

Authors:  M Duran; F A Beemer; C van de Heiden; J Korteland; P K de Bree; M Brink; S K Wadman; I Lombeck
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

2.  Antenatal diagnosis of molybdenum cofactor deficiency.

Authors:  R G Gray; A Green; S N Basu; G Constantine; R G Condie; C Dorche; C Vianey-Liaud; P Desjacques
Journal:  Am J Obstet Gynecol       Date:  1990-10       Impact factor: 8.661

3.  Combined deficiency of xanthine oxidase and sulphite oxidase: diagnosis of a new case followed by an antenatal diagnosis.

Authors:  P Desjacques; B Mousson; C Vianey-Liaud; R Boulieu; C Bory; P Baltassat; P Divry; M T Zabot; J Cotte; P Lagier
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  Antenatal diagnosis of combined xanthine and sulphite oxidase deficiencies.

Authors:  H Ogier; S K Wadman; J L Johnson; J M Saudubray; M Duran; J Boue; A Munnich; C Charpentier
Journal:  Lancet       Date:  1983-12-10       Impact factor: 79.321

5.  Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.

Authors:  J L Johnson; W R Waud; K V Rajagopalan; M Duran; F A Beemer; S K Wadman
Journal:  Proc Natl Acad Sci U S A       Date:  1980-06       Impact factor: 11.205

6.  Cysteine-S-sulfate: brain damaging metabolite in sulfite oxidase deficiency.

Authors:  J W Olney; C H Misra; T de Gubareff
Journal:  J Neuropathol Exp Neurol       Date:  1975-03       Impact factor: 3.685

7.  Sulfite oxidase deficiency in man: demonstration of the enzymatic defect.

Authors:  S H Mudd; F Irreverre; L Laster
Journal:  Science       Date:  1967-06-23       Impact factor: 47.728

8.  Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.

Authors:  A Colley; I C Lloyd; A Ridgway; D Donnai
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

9.  Absence of hepatic molybdenum cofactor. An inborn error of metabolism associated with lens dislocation.

Authors:  F A Beemer; M Duran; S K Wadman; B P Cats
Journal:  Ophthalmic Paediatr Genet       Date:  1985-04

10.  Molybdenum cofactor deficiency in a patient previously characterized as deficient in sulfite oxidase.

Authors:  J L Johnson; M M Wuebbens; R Mandell; V E Shih
Journal:  Biochem Med Metab Biol       Date:  1988-08
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