Biochemical and metabolic genetics

105 - MPS-II NBS Follow-up Leads to Identification of Two Putative Pseudo or Partial Deficiency Alleles in the IDS Gene

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100 - Large-scale In Vitro Functional Testing and Protein Structural Modelling to Help Develop New Insights into Hypophosphatasia Genotype/Phenotype Relationships

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106 - New Online Course on Analytical Validation of a Biochemical Genetic Test Using Liquid Chromatography - Tandem Mass Spectrometry   
112 - Two Cases of Leukocyte Adhesion Deficiency Type II (LADII/SLC35C1-CDG) with Short Stature and Developmental Delay but Mild Immune Phenotype
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