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3 results for "amino-acid-metabolism-inborn-errors"

Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review pubmed_article
Evidence Source 2024 PMID: 38245797
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review pubmed_article
Evidence Source 2022 PMID: 34652574
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases pubmed_article
Evidence Source 2014 PMID: 25022222

Evidence Search Results semantic · quality-ranked

Branched-chain amino acids for people with cirrhosis and hepatic encephalopathy meta_analysis cochrane_review
Quality: 77 2026 PMID: 41542879 DOI: 10.1002/14651858.CD001939.pub5
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis meta_analysis pubmed_article
Quality: 65 2022 PMID: 35764087 DOI: 10.1016/j.xcrm.2022.100670
Recent advances in neurometabolic diseases: The genetic role in the modern era meta_analysis pubmed_article
Quality: 55 2023 PMID: 37453291 DOI: 10.1016/j.yebeh.2023.109338
Meta-analysis of metabolites involved in bioenergetic pathways reveals a pseudohypoxic state in Down syndrome meta_analysis pubmed_article
Quality: 58 2020 PMID: 33167881 DOI: 10.1186/s10020-020-00225-8
Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis meta_analysis pubmed_article
Quality: 59 2024 PMID: 38703861 DOI: 10.1016/j.nbd.2024.106520
Branched-chain amino acid supplementation for improving growth and development in term and preterm neonates systematic_review cochrane_review
Quality: 66 2020 PMID: 33006765 DOI: 10.1002/14651858.CD012273.pub2
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review systematic_review pubmed_article
Quality: 56 2022 PMID: 34652574 DOI: 10.1007/s00439-021-02350-8
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review systematic_review pubmed_article
Quality: 59 2024 PMID: 38245797 DOI: 10.1186/s13023-024-03021-3
Glutamine supplementation to prevent morbidity and mortality in preterm infants meta_analysis cochrane_review
Quality: 68 2016 PMID: 27089158 DOI: 10.1002/14651858.CD001457.pub6
Glutamine supplementation to prevent morbidity and mortality in preterm infants meta_analysis cochrane_review
Quality: 68 2016 PMID: 26755330 DOI: 10.1002/14651858.CD001457.pub5

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