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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
MetabolomicsUntargeted plasma metabolome identifies biomarkers in patients with extracranial arteriovenous malformations

OBJECTIVE: This study aimed to investigate the plasma metabolic profile of patients with extracranial arteriovenous malformations (AVM).

METHOD: Plasma samples were collected from 32 AVM patients and 30 healthy controls (HC). Ultra-high performance liquid c...

2023-10-30 | MTBLS7753 | MetaboLights
MetabolomicsProfiling the metabolome of uterine fluid for early detection of ovarian cancer

Ovarian cancer (OC) causes high mortality in women because of ineffective biomarkers for early diagnosis. Here, we perform metabolomics analysis on an initial training set of uterine fluid from 96 gynecological patients. A seven-metabolite-marker panel consisting of vanillylmandelic acid, norepin...

2023-03-06 | MTBLS4861 | MetaboLights
MetabolomicsGut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia
Familial dysautonomia (FD) is a rare genetic neurologic disorder caused by impaired neuronal development and progressive degeneration of both the peripheral and central nervous systems. FD is monogenic, with >99.4% of patients sharing an identical point mutation in the elongator acetyltransferase co...
2022-12-06 | MTBLS5138 | MetaboLights
MetabolomicsMetabolomics profiling of pre-and post-anesthesia plasma samples obtained via Ficoll separation
1H Nuclear Magnetic Resonance (NMR) spectroscopy was used to investigate the metabolic consequences of general anesthesia in the plasma of two groups of patients with diagnosis for non-metastatic colorectal cancer and metastatic colorectal cancer with liver-metastasis, respectively. Patients were tr...
2015-11-17 | MTBLS172 | MetaboLights
MetabolomicsNon-invasive urinary metabolomic profiles discriminate biliary atresia from infantile hepatitis syndrome
INTRODUCTION: Neonatal cholestatic disorders are a group of hepatobiliary diseases occurring in the first 3 months of life. The most common causes of neonatal cholestasis are infantile hepatitis syndrome (IHS) and biliary atresia (BA). The clinical manifestations of the two diseases are ...
2019-06-25 | MTBLS689 | MetaboLights
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