Results 61 to 70 of about 22,929 (214)
Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges
International Journal of Neonatal Screening, 2015 With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many screening programs worldwide. Together with phenylketonuria, MCADD is the disorder most frequently
Esther M. Maier
doaj +1 more source
Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism [PDF]
, 2021 C Montanari +12 more
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Inborn Errors of Metabolism in Iran: First Report from Iran Metabolic Registry [PDF]
, 2023 Farzaneh Abbasi +7 more
openalex +1 more source
Lysine acylation causes collateral damage in inborn errors of metabolism
, 2022 Eric S. Goetzman, Jerry Vockley
openalex +2 more sources
METAB-LATAM: SHARING OF SCIENTIFIC KNOWLEDGE IN INBORN ERRORS OF METABOLISM
, 2023 Eliana M. Martínez Bazán +5 more
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Scientific Reports, 2019 Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the treatable diseases.
Alexandra Bower +6 more
doaj +1 more source
The landscape of CRISPR/Cas9 for inborn errors of metabolism [PDF]
, 2022 Andrés Felipe Leal +6 more
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Seizures and early onset dementia: D2HGA1 inborn error of metabolism in adults [PDF]
, 2020 Sepideh Tabarestani +5 more
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Understanding Inborn Errors of Metabolism through Metabolomics [PDF]
, 2022 Karen Driesen, Peter Witters
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Update on Neuropathies in Inborn Errors of Metabolism [PDF]
, 2021 Renata Pająk +3 more
openalex +1 more source