Characteristics of patients with specifc lysosomal storage diseases.

NIAID Data Ecosystem2026-03-12 收录

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https://figshare.com/articles/dataset/Characteristics_of_patients_with_specifc_lysosomal_storage_diseases_/13512137 数据链接链接失效反馈

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资源简介：

Characteristics of patients with specifc lysosomal storage diseases.

创建时间：

2020-12-31

Additional file 2 of Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India

遗传筛查

溶酶体贮积症

Additional file 2. Single molecule molecular inversion probe sequences of 903 probes along with their target enrichment site coordinates used in the smMIP based assay.

DataCite Commons2024-08-15 更新90

Clinical characteristics of c.907G>A, p.(D303N) carriers.

表型遗传关联

罕见病临床特征

Clinical characteristics of c.907G>A, p.(D303N) carriers.

NIAID Data Ecosystem40

Transcriptomics analysis of a zebrafish model of Combined Saposin Deficiency. Transcriptomics analysis of a zebrafish model of Combined Saposin Deficiency

溶酶体贮积症

神经细胞转录组学

Combined Saposin Deficiency is a lysosomal storage disease with multiple-organ pathologies that often involve neurodegeneration and early mortality. To investigate the mechanisms driving saposin loss-

NIAID Data Ecosystem30

Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

新生儿筛查

溶酶体贮积症

Abstract We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method s

DataCite Commons2020-08-29 更新60

Additional file 4 of Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India

溶酶体贮积症

分子诊断

Additional file 4. Clinical data and biochemical assay results of 187 patients with prior biochemical diagnosis of LSD in the diagnostic yield cohort.

Figshare2024-08-15 更新30

Characteristics of patients with specifc lysosomal storage diseases.

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