Molybdenum cofactor deficiency in two siblings: Diagnostic difficulties
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/BF01955243.pdf
Reference13 articles.
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2. Brown GK, Scholem RD, Croll HB, Wraith JE, McGill JJ (1989) Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients. Neurology 39:252–257
3. Colley A, Lloyd, Ridgway A, Donnai D (1991) Ectopia lentis et pupillae: the genetic aspects and differential diagnosis. J Med Genet 28:791–794
4. Desjacques P, Mousson B, Vianey-Liaud C, Boulieu R, Bory C, Baltassat P, Divry P, Zabot MT, Cotte J, Lagier P, Philip N (1985) Combined deficiency of xanthine oxidase and sulphite oxidase: Diagnosis of a new case followed by an antenatal diagnosis. J Inherited Metab Dis 8 [Suppl 2]:117–118
5. Duran M, Beemer FA, Heiden C van der, Korteland J, Bree PK de, Brink M, Wadman SK (1978) Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport? J Inherited Metab Dis 1:175–178
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