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A Novel Variant in the SUOX Gene in the Oldest Individual with Late-Onset Isolated Sulfite Oxidase Deficiency

Published online by Cambridge University Press:  16 December 2024

Susanna Rizzi ,
Carlo Alberto Cesaroni Open the ORCID record for Carlo Alberto Cesaroni [Opens in a new window] ,
Carlotta Spagnoli Open the ORCID record for Carlotta Spagnoli [Opens in a new window] ,
Anna Cavalli ,
Marzia Pollazzon ,
Stefano Giuseppe Caraffi ,
Claudia Dittadi ,
Daniele Frattini ,
Livia Garavelli  and
Carlo Fusco
Susanna Rizzi
Affiliation:
Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother-Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
Carlo Alberto Cesaroni*
Affiliation:
Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother-Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
Carlotta Spagnoli
Affiliation:
Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother-Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
Anna Cavalli
Affiliation:
Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother-Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
Marzia Pollazzon
Affiliation:
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
Stefano Giuseppe Caraffi
Affiliation:
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
Claudia Dittadi
Affiliation:
Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother-Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
Daniele Frattini
Affiliation:
Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother-Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
Livia Garavelli
Affiliation:
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
Carlo Fusco
Affiliation:
Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother-Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
*
Corresponding author: Carlo Alberto Cesaroni; Email: carloalberto.cesaroni@ausl.re.it
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Abstract

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Keywords

Genetics – metabolic disorderslate-onset isolated sulfite oxidase deficiencyreduced plasma homocysteineSUOX
Type
Letter to the Editor: New Observation
Information
Canadian Journal of Neurological Sciences , First View , pp. 1 - 3
Copyright
© The Author(s), 2024. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation

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References

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