Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2016_30
Reference25 articles.
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3. Fingerhut R, Ensenauer R, Roschinger W et al (2009) Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency. Anal Chem 81(9):3571–3575
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1. Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands;JIMD Reports;2023-09-11
2. Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience;Molecular Genetics and Metabolism Reports;2021-09
3. Increased detection of primary carnitine deficiency through second-tier newborn genetic screening;Orphanet Journal of Rare Diseases;2021-03-23
4. Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis;Current Molecular Medicine;2020-04-28
5. Carnitine uptake defect due to a 5′UTR mutation in a pedigree with false positives and false negatives on Newborn screening;Molecular Genetics and Metabolism;2020-03
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