A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency-Reference-Cited by-同舟云学术

A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

Published:2020-04-14 Issue:1 Volume:54 Page:79-86
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Václavík Jan¹²^ORCID,Mádrová Lucie¹²,Kouřil Štěpán¹²,de Sousa Julie¹²³,Brumarová Radana¹²,Janečková Hana¹²,Jáčová Jaroslava¹²,Friedecký David¹²,Knapková Mária⁴,Kluijtmans Leo A. J.⁵,Grünert Sarah C.⁶,Vaz Frédéric M.⁷,Janzen Nils⁸⁹,Wanders Ronald J. A.⁷,Wevers Ron A.⁵,Adam Tomáš¹²^ORCID

Affiliation:

1. Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacký University Olomouc Olomouc Czech Republic

2. Laboratory of Inherited Metabolic Disorders, Department of Clinical ChemistryUniversity Hospital in Olomouc Olomouc Czech Republic

3. Department of Mathematical Analysis and Applications of Mathematics, Faculty of SciencePalacký University Olomouc Olomouc Czech Republic

4. Banská Bystrica Children's University Hospital Banská Bystrica Slovakia

5. Translational Metabolic Laboratory, Department of Laboratory MedicineRadboud University Medical Centre GA Nijmegen Netherlands

6. Department of General Pediatrics, Adolescent Medicine and NeonatologyMedical Center – University of Freiburg, Faculty of Medicine Freiburg Germany

7. Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam Netherlands

8. Screening‐Labor Hannover Hannover Germany

9. Department of Clinical ChemistryHannover Medical School Hannover Germany

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12118

Reference14 articles.

1. Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots

2. Identification of 3-methylglutarylcarnitine. A new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.

3. Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra

4. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

5. Measurement of succinyl-carnitine and methylmalonyl-carnitine on dried blood spot by liquid chromatography-tandem mass spectrometry

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