Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature-Reference-Cited by-同舟云学术

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Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature

Published:2019-03-21 Issue:6 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Scelsa Barbara¹^ORCID,Gasperini Serena²,Righini Andrea³,Iascone Maria⁴,Brazzoduro Valeria G.¹,Veggiotti Pierangelo¹

Affiliation:

1. Pediatric Neurology Unit V. Buzzi Children's Hospital Milan Italy

2. Pediatric Rare Diseases Unit, Department of Pediatrics MBBM Foundation, ATS Monza e Brianza Monza Italy

3. Department of Pediatric Radiology and Neuroradiology V. Buzzi Children's Hospital Milan Italy

4. Laboratory of Genetic Medicine ASST Papa Giovanni XXIII Bergamo Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.657

Reference22 articles.

1. Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome

2. CT and MR appearance of the brain in two children with molybdenum cofactor deficiency;Appignani B. A.;American Journal of Neuroradiology,1996

3. An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency

4. Ahomocysteinemia in molybdenum cofactor deficiency

5. Molybdenum cofactor deficiency - phenotypic variability in a family with a late-onset variant

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1. Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay;Pediatrics;2024-05-29

2. Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies;Journal of Inherited Metabolic Disease;2024-04-16

3. Rapid exome sequencing for children with severe acute encephalopathy – A case series;European Journal of Medical Genetics;2024-04

4. 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

5. Investigation of structural and neurobiochemical differences in brains from high-performance and native hen breeds;Scientific Reports;2023-01-05

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