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acidemia
(phenotype)
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Genetic Markers
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IVD
SPR
AMT
MUT
MMAB
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MODULE_40
REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES
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regulation of neurotransmitter levels
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Curated Studies
Most Correlated Studies
Retinas from Zellweger disorder model [G844D] PEX1 homozygotes and heterozygotes
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
OMIM - Metabolic disease
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Literature
Most Relevant Literature
New insights into the pathophysiology of methylmalonic acidemia.
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Altered immune response in organic acidemia.
Transient Insulin Resistance in Propionic Acidaemia: Knowing is half the battle.
Determining ideal balance among branched-chain amino acids in medical formula for Propionic Acidemia…
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Clinical Trials
Most Relevant Clinical Trials
Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia
Anaplerotic Therapy in Propionic Acidemia
Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia
Clinical and Laboratory Study of Methylmalonic Acidemia
Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
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