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Article

Critical appraisal of genotype assessment in molybdenum cofactor deficiency.

Journal of inherited metabolic disease - 1 Nov 2017

Hinderhofer Katrin, Mechler Konstantin, Hoffmann Georg F, Lampert Anette, Mountford William K, Ries Markus

Abstract excerpt

INTRODUCTION: Molybdenum cofactor deficiency (MoCD) is an ultra-orphan, life-threatening disease. Substrate substitution therapy has successfully been performed in single cases of MoCD type A and clinical trials are underway for drug registration. We present an innovative approach for classification of genotype severity to test the hypothesis that milder sequence variants in MoCD result in a less severe disease...

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PMID: 28900816
DOI: 10.1007/s10545-017-0077-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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