Implementation of a fast method for the measurement of carnitine palmitoyltransferase 2 activity in lymphocytes by tandem mass spectrometry as confirmation for newborn screening-Reference-Cited by-同舟云学术

Implementation of a fast method for the measurement of carnitine palmitoyltransferase 2 activity in lymphocytes by tandem mass spectrometry as confirmation for newborn screening

Published:2019-04-23 Issue:5 Volume:42 Page:850-856
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Tucci Sara¹,Behringer Sidney¹,Sturm Marga²,Grünert Sarah C.¹,Spiekerkoetter Ute¹

Affiliation:

1. Department of General Pediatrics, Center for Pediatrics and Adolescent MedicineMedical Centre‐University of Freiburg, Faculty of Medicine Freiburg Germany

2. Department of General PediatricsUniversity Children's Hospital Duesseldorf Duesseldorf Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12098

Reference33 articles.

1. Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

2. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

3. Carnitine palmitoyltransferase II (CPT II) deficiency: Genotype–Phenotype analysis of 50 patients

4. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data

5. Diagnostic pitfall in antenatal manifestations of CPT II deficiency

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia;Genes & Nutrition;2023-06-06

2. Target diseases for neonatal screening in Germany—challenges for treatment and long-term care;Deutsches Ärzteblatt international;2022-04-29

3. Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases;Journal of Clinical Medicine;2021-10-22

4. An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use;Frontiers in Endocrinology;2021-08-02

5. Analytical Chemistry in the 21st Century: Challenges, Solutions, and Future Perspectives of Complex Matrices Quantitative Analyses in Biological/Clinical Field;Analytica;2020-10-30