• A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder
• A Proposed Concept for Defective Mitophagy Leading to Late Stage Ineffective Erythropoiesis in Pyruvate Kinase Deficiency
• A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency
• Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics
• Astrocyte Dysfunction in Developmental Neurometabolic Diseases
• Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency
• Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines
• Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
• Congenital NAD Deficiency Disorder
• Deficiency of the metabolic enzyme SCHAD in pancreatic beta-cells promotes amino acid-sensitive hypoglycemia
• Deficiency of the metabolic enzyme SCHAD in pancreatic β-cells promotes amino acid-sensitive hypoglycemia
• Disruptive <em>NADSYN1</em> Variants Implicated in Congenital Vertebral Malformations
• Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations
• Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation
• Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies
• Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance
• Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency
• Identification of a Novel Variant of <em>PDGFC</em> Associated with Nonsyndromic Cleft Lip and Palate in a Chinese Family
• Impaired lysosomal acidity maintenance in acid lipase-deficient cells leads to defective autophagy
• ISG15 deficiency features a complex cellular phenotype that responds to treatment with itaconate and derivatives
• Metabolic abnormalities in G6PC3-deficient human neutrophils result in severe functional defects
• Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells
• Molecular Mechanisms of Glutamine Synthetase Mutations that Lead to Clinically Relevant Pathologies
• Muscle-specific lack of GFPT1 in knock-in mice triggers ER stress to alleviate misfolded proteins
• Muscle-specific lack of Gfpt1 triggers ER stress to alleviate misfolded protein accumulation
• Secondary NAD+ deficiency in the inherited defect of glutamine synthetase
• Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the <em>ASPM</em> Gene