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The Combined Neurogenetic Disorders; Blended Phenotype of Metachromatic Leukodystrophy (MLD) and Glutaric Aciduria Type 1 (GA -1) in an Indian Child.

作者信息

Gowda Vykuntaraju K, Reddy Viveka Santhosh, Srinivasan Varunvenkat M, Vamyanmane Dhananjaya K

机构信息

Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

Department of Pediatric Radiology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

出版信息

Ann Indian Acad Neurol. 2024 Jan-Feb;27(1):103-105. doi: 10.4103/aian.aian_772_23. Epub 2023 Dec 13.

DOI:10.4103/aian.aian_772_23
PMID:38495240
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10941903/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ab2/10941903/6860c536445c/AIAN-27-103-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ab2/10941903/51f692f062cd/AIAN-27-103-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ab2/10941903/6860c536445c/AIAN-27-103-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ab2/10941903/51f692f062cd/AIAN-27-103-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ab2/10941903/6860c536445c/AIAN-27-103-g002.jpg

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本文引用的文献

1
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.对一名患有严重神经发育障碍的埃及婴儿进行多基因病变的定量分析，该婴儿的多重分子诊断结果导致了这种疾病。
Am J Med Genet A. 2022 Mar;188(3):735-750. doi: 10.1002/ajmg.a.62565. Epub 2021 Nov 23.
2
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.土耳其人群神经发育障碍中多基因致病性变异的高患病率。
Am J Hum Genet. 2021 Oct 7;108(10):1981-2005. doi: 10.1016/j.ajhg.2021.08.009. Epub 2021 Sep 28.
3
Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 - case report.
MRI 显示脑白质出现虎斑样改变：谷氨酸尿症 1 型——病例报告。
BMC Pediatr. 2021 Mar 27;21(1):146. doi: 10.1186/s12887-021-02603-5.
4
Next generation sequencing and the future of genetic diagnosis.下一代测序技术与基因诊断的未来。
Neurotherapeutics. 2014 Oct;11(4):699-707. doi: 10.1007/s13311-014-0288-8.
5
Glutaric acidemia type 1.1型戊二酸血症
Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86-94. doi: 10.1002/ajmg.c.30088.
6
MR of childhood metachromatic leukodystrophy.儿童异染性脑白质营养不良的磁共振成像
AJNR Am J Neuroradiol. 1997 Apr;18(4):733-8.
7
Genetic heterogeneity in metachromatic leukodystrophy.异染性脑白质营养不良中的遗传异质性。
Am J Hum Genet. 1982 Mar;34(2):171-81.