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Abbreviations PCD: Primary Carnitine Deficiency SCD: Secondary Carnitine Deficiency CACT: Carnitine-Acylcarnitine Translocase CCD: Carnitine Transport and Cycle Disorders MS/MS: Tandem Mass Spectrometry NGS: Next-Generation Sequencing ONT: Oxford Nanopore Technology BTD: Biotinidase Deficiency EDTA: Ethylenediaminetetraacetic Acid PCR: Polymerase Chain Reaction VCF: Variant Call Format ACMG: American College of Medical Genetics VUS: Variants Of Unknown Significance LP: Likely Pathogenic PDB: Protein Data Bank IGV: Integrative Genomics Viewer CES: Clinical Exome Sequencing WES: Whole Exome Sequencing MAF: Minor Allele Frequency IGV: Integrative Genomics Viewer WGS: Whole Genome Sequence References Vanitha Sri T, Dhanusha K, Amirtha Lakshmi B, et al
10 GCL is composed of two subunits: a heavy, catalytic subunit (GCLC) and a light, modifier subunit
Iako organizam prirodno stvara ovaj sastojak, njegov nivo opada pod uticajem razliitih unutranjih i spoljanjih faktora
Photodecaging of a Mitochondria-localized iridium(III) endoperoxide complex for two-photon photoactivated therapy under hypoxia
Protecting skin health during this transformation is essential to feeling confident and balanced
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