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aciduria
(phenotype)
Summary
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Genetic Markers
Most Correlated Genes
Most Correlated SNPs
HGD
LDHD
DHTKD1
SLC25A1
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Pathway Enrichment
Most Correlated Biogroups
MODULE_576
MODULE_503
GSE22432_MULTIPOTENT_VS_COMMON_DC_PROGENITOR_DN
GSE5542_IFNG_VS_IFNA_TREATED_EPITHELIAL_CELLS_6H_DN
CAIRO_HEPATOBLASTOMA_DN
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Curated Studies
Most Correlated Studies
Cardiac gene expression in an inducible tafazzin shRNA knockdown mouse model of Barth syndrome
Dermal fibroblasts from pediatric patients with dilated cardiomyopathy with ataxia syndrome
Kidney tubule epithelial cells from methylmalonic acidemia patients carrying MUT gene mutation
Lymphoblastoid cell lines of propionic acidemia patients and carrier parents cultured in low glucose
OMIM - Inherited methylmalonic acidemia and homocystinuria
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Literature
Most Relevant Literature
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argin…
Coronary Vasospasm in a Patient With Argininosuccinic Aciduria.
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology:…
Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase…
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.
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Clinical Trials
Most Relevant Clinical Trials
Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic Aciduria
Nitric Oxide Supplementation in Argininosuccinic Aciduria
A Dietary Source of Potassium Citrate to Resolve Hypocitraturia and Aciduria in Patients With Kidney…
Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study
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