“Relapsing–Remitting” Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency-Reference-Cited by-同舟云学术

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“Relapsing–Remitting” Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency

Published:2024-08-14 Issue: Volume: Page:
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Gana Simone¹,Rossetto Gloria²,Garau Jessica¹,Vacchini Valeria³,Ferraro Francesca²,Rognone Elisa⁴,Pichiecchio Anna²⁴,Gasperini Serena⁵,Valente Enza Maria¹⁶^ORCID,Orcesi Simona²³

Affiliation:

1. Neurogenetics Research Center, IRCCS Mondino Foundation Pavia Italy

2. Department of Brain and Behavioural Sciences University of Pavia Pavia Italy

3. Department of Child Neurology and Psychiatry IRCSS Mondino Foundation Pavia Italy

4. Department of Neuroradiology IRCSS Mondino Foundation Pavia Italy

5. Department of Pediatrics Fondazione IRCCS San Gerardo dei Tintori Monza Italy

6. Department of Molecular Medicine University of Pavia Pavia Italy

Funder

Ministero della Salute

Publisher

Wiley

Reference10 articles.

1. Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

2. Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies

3. 3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

5. ACGS best practice guidelines for variant classification in rare disease;Durkie M;Assoc Clin Genet Sci,2023

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