Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients-Reference-Cited by-同舟云学术

Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients

Published:2020-02 Issue:2 Volume:42 Page:157-164
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Sharawat Indar Kumar,Saini Lokesh,Singanamala Bhanudeep,Saini Arushi Gahlot,Sahu Jitendra Kumar,Attri Savita Verma,Sankhyan Naveen

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference18 articles.

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2. Molybdenum cofactor and isolated sulphite oxidase deficiencies: clinical and molecular spectrum among Egyptian patients;Zaki;Eur J Paediatr Neurol,2016

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

4. Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. evidence for clinical and biological improvement;Touati;J Inherit Metab Dis,2000

5. Molybdenum cofactor deficiency: review of 12 cases (MoCD and review);Bayram;Eur J Paediatr Neurol,2013

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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. Enhanced ileum function in weaned piglets via Laminaria digitata and alginate lyase dietary inclusion: A combined proteomics and metabolomics analysis;Journal of Proteomics;2023-10

3. A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report;Frontiers in Neurology;2023-09-15

4. Sulfite Impairs Bioenergetics and Redox Status in Neonatal Rat Brain: Insights into the Early Neuropathophysiology of Isolated Sulfite Oxidase and Molybdenum Cofactor Deficiencies;Cellular and Molecular Neurobiology;2023-03-02

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