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Carnitine uptake defect

Renal carnitine transport defectPrimary carnitine deficiency
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Carnitine uptake defect" returned 0 free, full-text review articles. First 0 results:
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.
Last Updated: Nov 19, 2015

A defect in intracellular uptake of carnitine has been identified in patients with severe carnitine deficiency. To define the clinical manifestations of this disorder, the presenting features of 15 affected infants and children were examined. Progressive cardiomyopathy, with or without ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Carnitine uptake defect" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Carnitine uptake defect" returned 1 free, full-text research articles. First 1 results:
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests.
Last Updated: Dec 10, 2019

Tandem mass spectrometry (MS/MS) analysis is a powerful tool for newborn screening, and many rare inborn errors of metabolism are currently screened using MS/MS. However, the sensitivity of MS/MS screening for several inborn errors, including citrin deficiency (screened by citrulline ...

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