Isolated Sulfite Oxidase Deficiency: Response to Dietary Treatment in a Patient with Severe Neonatal Presentation
Author:
Affiliation:
1. CHOC Children’s Hospital, USA
2. CHOC Children’s Hospital, USA; University of California-Irvine, USA
Publisher
FapUNIFESP (SciELO)
Subject
Genetics (clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Link
http://www.scielo.br/pdf/jiems/v7/2326-4594-jiems-7-e20190001.pdf
Reference20 articles.
1. Isolated sulfite oxidase deficiency;Claerhout H;J Inherit Metab Dis,2018
2. Neurologic Injury in Isolated Sulfite Oxidase Deficiency;Bosley TM;Can J Neurol Sci,2014
3. Sulfite oxidase deficiency in man: demonstration of the enzymatic defect;Mudd SH;Science,1967
4. Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy;Hobson EE;Eur J Pediatr,2005
5. Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism;Shih VE;N Engl J Med,1977
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1. Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies;Journal of Inherited Metabolic Disease;2024-04-16
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. The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System (Preprint);2020-11-09
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