Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement-Reference-Cited by-同舟云学术

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Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement

Published:2000-02 Issue:1 Volume:23 Page:45-53
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Touati G.¹,Rusthoven E.¹,Depondt E.¹,Dorche C.²,Duran M.³,Heron B.⁴,Rabier D.²,Russo M.⁵,Saudubray J. M.¹

Affiliation:

1. ; Hôpital Necker-Enfants Malades; Paris France

2. ; Hôpital Debrousse; Lyon France

3. ; University Children's Hospital ‘Het Wilhelmina Kinderziekenhuis’; Utrecht The Netherlands

4. ; Hôpital Saint-Vincent de Paul; Paris France

5. Centre Hospitalier de Fontainebleau; France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005646813492/fullpdf

Reference17 articles.

1. Deéficit en sulÐte oxidase se preésentant comme un syndrome de Leigh;Amiel;Arch Pediatr,1994

2. A mild form of infantile sulphite oxidase deficiency;Barbot;Neuropediatrics,1995

3. Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients;Brown;Neurology,1989

4. Microassay of inorganic sulfate in biological fluids by controlled anion chromatography;Cole;J Chromatogr,1981

5. Combined deficiency of xanthine oxidase and sulphite oxidase: diagnosis of a new case followed by an antenatal diagnosis;Desjacques;J Inher Metab Dis,1985

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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. Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics;Cell Reports;2024-03

3. Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype–phenotype correlation;Orphanet Journal of Rare Diseases;2022-10-27

4. Molybdenum Cofactor Deficiency in Humans;Molecules;2022-10-14

5. 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

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