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MetabolomicsRare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

We investigated the cumulative contribution of rare, exonic genetic variants on the concentration of 1,487 metabolites and 53,714 metabolite ratios in urine by performing gene-based tests based on 226,233 variants from up to 4,864 participants of the German Chronic Kidney Disease (GCKD)...

2021-03-09 | MTBLS284 | MetaboLights
MetabolomicsRare and common genetic determinants of metabolic individuality and their effects on human health (EPIC-Norfolk study assays)

Garrod’s concept of “chemical individuality” has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolo...

2022-09-09 | MTBLS833 | MetaboLights
MetabolomicsSex differences modulate blood metabolome profiles in Parkinson’s disease patients harbouring rare genetic variants

Background: Recent findings from our group indicate that sex differences in Parkinson's disease (PD) patients with idiopathic conditions or carrying pathogenic mutations significantly influence the blood occurrence of D and L-amino acids, lipids, antioxidants, and energy-related metabolites when ...

2026-06-26 | MTBLS12746 | MetaboLights
MetabolomicsRare and common genetic determinants of metabolic individuality and their effects on human health (INTERVAL study assays)

Garrod’s concept of “chemical individuality” has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolo...

2022-09-09 | MTBLS834 | MetaboLights
UnknownNational Rare Diseases Registry System (NRDRS): China's first nation-wide rare diseases demographic analyses.
Not available
S-EPMC8684272 | biostudies-literature
UnknownRare diseases in China: analysis of 2014-2015 hospitalization summary reports for 281 rare diseases from 96 tertiary hospitals.
Not available
S-EPMC6604331 | biostudies-literature
UnknownAddressing psychosocial vulnerability in rare diseases: a call to action from a European expert consensus study.
Not available
S-EPMC12560521 | biostudies-literature
UnknownOperational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.
Not available
S-EPMC11389069 | biostudies-literature
GenomicsThe NIHR BioResource Rare Diseases BRIDGE consortium sequencing projects
The NIHR BioResource Rare Diseases BRIDGE consortium is a collaboration between 13 Rare Disease projects that aim to discover the genetic sequence variants underlying unresolved inherited disorders and to improve identification of already identified high penetrance variants. BRIDGE projects cover a ...
EGAS00001001012 | EGA
UnknownDiagnostic delay in rare diseases: data from the Spanish rare diseases patient registry.
Not available
S-EPMC9670379 | biostudies-literature
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