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MetabolomicsSMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy

Beyond motor neuron degeneration, homozygous mutations in the survival motor neuron 1 (SMN1) gene cause multiorgan and metabolic defects in patients with spinal muscular atrophy (SMA). However, the precise biochemical features of these alterations and the age of onset in the brain and peripheral ...

2023-11-27 | MTBLS8784 | MetaboLights
GenomicsIllumina_SNParray - samples
SNP array of 7 HCCs and matched background liver in children with bile salt export pump deficiency
EGAD00010000560 | EGA
Genomicsena-DATASET-KCL-CS-01-04-2014-19:21:08:940-7 - samples
Whole exome sequencing of 6 HCCs and matched background liver in children with bile salt export pump deficiency.
EGAD00001000811 | EGA
GenomicsStudy of pediatric hepatocellular carcinoma caused by bile salt export pump deficiency
Hepatocellular carcinoma (HCC) is almost invariably associated with an underlying inflammatory state, whose direct contribution to the acquisition of critical genomic changes is unclear. We mapped the acquired genomic alterations in human and mouse HCCs induced by defects in hepatocyte biliary trans...
EGAS00001000749 | EGA
GenomicsStudy of pediatric hepatocellular carcinoma with BSEP deficiency
Data Access Committee EGAC00001000191
EGAC00001000191 | EGA
UnknownRisk profiles and one-year outcomes of patients with newly diagnosed atrial fibrillation in India: Insights from the GARFIELD-AF Registry.
Not available
S-EPMC6306365 | biostudies-literature
UnknownCardioversion in patients with newly diagnosed non-valvular atrial fibrillation: observational study using prospectively collected registry data.
Not available
S-EPMC8548918 | biostudies-literature
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