Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference22 articles.
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2. Sulfite oxidase deficiency: Clinical, neuroradiologic, and biochemical features in two new patients;Brown;Neurology,1989
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4. Isolated sulfite oxidase deficiency: Review of two cases in one family;Edwards;Ophthalmology,1999
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1. Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency;Clinica Chimica Acta;2022-07
2. Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review;HRB Open Research;2021-11-23
3. Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family;Frontiers in Genetics;2021-05-07
4. Isolated sulfite oxidase deficiency;Journal of Inherited Metabolic Disease;2017-10-04
5. Chitosan-Promoted Direct Electrochemistry of Human Sulfite Oxidase;The Journal of Physical Chemistry B;2017-09-21
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