Evidence Search

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Found 10 results for "amino-acid-metabolism-inborn-errors" (0.246s)
Branched-chain amino acids for people with cirrhosis and hepatic encephalopathy Score: 67.39
cochrane_review meta_analysis Quality: 77 📅 2026 🏷️ cochrane-amino-acids 🔓 Open Access
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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 Score: 65.41
pubmed_article meta_analysis Quality: 65 📅 2022 🏷️ vitamin-b12 📊 16 citations 🔓 Open Access
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PMID: 35764087 DOI: 10.1016/j.xcrm.2022.100670
Recent advances in neurometabolic diseases: The genetic role in the modern era Score: 64.76
pubmed_article meta_analysis Quality: 55 📅 2023 🏷️ vitamin-b6 📊 8 citations
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PMID: 37453291 DOI: 10.1016/j.yebeh.2023.109338
Meta-analysis of metabolites involved in bioenergetic pathways reveals a pseudohypoxic state in Down syndrome Score: 63.89
pubmed_article meta_analysis Quality: 58 📅 2020 🏷️ coq10 📊 40 citations 🔓 Open Access
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PMID: 33167881 DOI: 10.1186/s10020-020-00225-8
Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis Score: 63.65
pubmed_article meta_analysis Quality: 59 📅 2024 🏷️ coq10 📊 80 citations 🔓 Open Access
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PMID: 38703861 DOI: 10.1016/j.nbd.2024.106520
Branched-chain amino acid supplementation for improving growth and development in term and preterm neonates Score: 63.22
cochrane_review systematic_review Quality: 66 📅 2020 🏷️ cochrane-amino-acids 📊 9 citations 🔓 Open Access
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PMID: 33006765 DOI: 10.1002/14651858.CD012273.pub2
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review Score: 62.28
pubmed_article systematic_review Quality: 56 📅 2022 🏷️ vitamin-b12 📊 16 citations
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PMID: 34652574 DOI: 10.1007/s00439-021-02350-8
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review Score: 62.18
pubmed_article systematic_review Quality: 59 📅 2024 🏷️ vitamin-b12 📊 20 citations 🔓 Open Access
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PMID: 38245797 DOI: 10.1186/s13023-024-03021-3
Glutamine supplementation to prevent morbidity and mortality in preterm infants Score: 61.12
cochrane_review meta_analysis Quality: 68 📅 2016 🏷️ cochrane-amino-acids 📊 26 citations
PMID: 26755330 DOI: 10.1002/14651858.CD001457.pub5
Glutamine supplementation to prevent morbidity and mortality in preterm infants Score: 61.12
cochrane_review meta_analysis Quality: 68 📅 2016 🏷️ cochrane-amino-acids 📊 35 citations 🔓 Open Access
PMID: 27089158 DOI: 10.1002/14651858.CD001457.pub6