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February 10, 2024

[Clinical and genetic analysis of a child with Canavan disease due to compound heterozygous variants of ASPA gene].

Shasha Niu Yanyan Ma Yuqiang Lyu Hongmei Xin Dong Wang Yanxin Wang Yanan Yang Zilong Li Yi Liu Zhongtao Gai

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Abstract

To analyze the clinical phenotype and genetic characteristics for a child with Canavan disease.

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Cite This Study

Niu et al. (2024) studied this question.

synapsesocial.com/papers/68e79adbb6db64358770b191 https://doi.org/10.3760/cma.j.cn511374-20221031-00733

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Diseasecase_report · 2024 · 1 citations
2Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activitycase_series · 2017 · 33 citations
3Prevalence and carrier frequency of Canavan disease in a South Indian community with implications for research and public healthCross-Sectional Study · 2026
4A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Diseasecase_series · 2024 · 1 citations
5Canavan DiseaseReview · 2020 · 6 citations

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