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-Reference-Cited by-同舟云学术

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

Published:2021-09 Issue: Volume:28 Page:100776
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Schiergens Katharina A.,Weiss Katharina J.,Röschinger Wulf,Lotz-Havla Amelie S.,Schmitt Joachim,Dalla Pozza Robert,Ulrich Sarah,Odenwald Birgit,Kreuder Joachim,Maier Esther M.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference36 articles.

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2. Guiding policy decisions for genetic screening: developing a systematic and transparent approach;Andermann;Public Health Genomics,2011

3. First prenatal diagnosis of the carnitine transporter defect;Christodoulou;Am. J. Med. Genet.,1996

4. Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects;El-Hattab;Genet Med,2010

5. A mutation creating an upstream translation initiation codon in SLC22A5 5’UTR is a frequent cause of primary carnitine deficiency;Ferdinandusse;Hum. Mutat.,2019

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1. Incorporating Next‐Generation Sequencing as a Second‐Tier Test for Primary Carnitine Deficiency;Molecular Genetics & Genomic Medicine;2024-09

2. Newborn screening for primary carnitine deficiency using a second-tier genetic test;Journal of Pediatric Endocrinology and Metabolism;2024-01-01

3. Newborn screening for fatty acid oxidation disorders in a southern Chinese population;Heliyon;2024-01

4. Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples;Journal of Inherited Metabolic Disease;2023-09-12

5. A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child;Orphanet Journal of Rare Diseases;2023-06-02