Biochemical and metabolic genetics

112 - Two Cases of Leukocyte Adhesion Deficiency Type II (LADII/SLC35C1-CDG) with Short Stature and Developmental Delay but Mild Immune Phenotype

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106 - New Online Course on Analytical Validation of a Biochemical Genetic Test Using Liquid Chromatography - Tandem Mass Spectrometry   

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117 - Late-Onset Glutaric Acidemia Type 2 Is Associated with Increased Superoxide Levels and Decreased ATP Production, Spare Respiratory Capacity, and Levels of ETFDH Functional Partners
123 - The First Case of FLAD1 Associated Multiple Acyl-CoA Dehydrogenace Deficiency Identified by Newborn Screening
124 - Diagnostic Yield of Neuronal Ceroid Lipofuscinoses Molecular Genetic Tests: Phenotype and Genotype of Neuronal Ceroid Lipofuscinoses
126 - A Case of Infantile Onset Pompe Disease Presenting with Non-Immune Hydrops Fetalis
132 - Inflammation-Associated Cytokines and Wnt Gene Expression in the Intestinal Stem Cell Niche
133 - Identifying Rare Metabolic Disorders of Energy Dysfunction in Patients with Treatment-Resistant Depression
136 - Biochemical Diagnosis of Mannosyl-Oligosaccharide Glucosidase Type of Congenital Disorders of Glycosylation (MOGS-CDG)
137 - Variable Expressivity of a Variant in the OTC Promoter Region Causing Hyperammonemia Across Generations
141 - Leigh Syndrome In An Adolescent With a Rare Mutation of PDHA1
143 - Dizygotic Twins Presenting with Hypertyrosinemia and Discordant Succinylacetone Results