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TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.

Validation of the EULAR/ACR 2017 idiopathic inflammatory myopathy classification criteria in juvenile dermatomyositis patients.

Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains.

Inborn errors of metabolism.

Novel genetic variants of inborn errors of immunity

Molecular requirements for human lymphopoiesis as defined by inborn errors of immunity

Correction to: IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-2

Past, Present, and Future of The Journal of Clinical Immunology, the International Journal of Inborn Errors of Immunity

A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.

Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease.

Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains

Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a <i>C. elegans</i> propionic acidemia model

Evaluating Face-Recognition Technology in Syndrome Diagnosis

Behçet disease (BD) and BD-like clinical phenotypes: NF-kB pathway in mucosal ulcerating diseases.

Metabolites, Vol. 11, Pages 51: L-Carnitine and Acylcarnitines: Mitochondrial Biomarkers for Precision Medicine

L-Carnitine and Acylcarnitines: Mitochondrial Biomarkers for Precision Medicine.

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms.

Biomolecules, Vol. 10, Pages 1352: A Great Catch for Investigating Inborn Errors of Metabolism—Insights Obtained from Zebrafish

Biomolecules, Vol. 10, Pages 1352: A Great Catch for Investigating Inborn Errors of Metabolism—Insights Obtained from Zebrafish

Psychiatric Symptoms Associated with Inborn Errors of Metabolism

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.

Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolism.

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism.

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.

Quality improvement: The tools we need to improve care for patients with inborn errors of metabolism.

Established and Emerging Treatments for Patients with Inborn Errors of Metabolism

A retrospective review of outcomes in the treatment of hyperammonemia with renal replacement therapy due to inborn errors of metabolism

Therapies in inborn errors of oxidative metabolism.

Otitis Media and Inborn Errors of Immunity

IJNS, Vol. 6, Pages 83: Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism

Metabolites, Vol. 11, Pages 8: Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism

Inborn errors of immunity associated with characteristic phenotypesϯ

Inborn Errors of Immunity: How to diagnose them?

Coronavirus Disease 2019 in patients with inborn errors of immunity: an international study

Stiehm's Immune Deficiencies: Inborn Errors of Immunity

Consensus of the Italian Primary Immunodeficiency Network on Transition Management from Pediatric to Adult Care in Patients Affected with Childhood Onset Inborn Errors of Immunity

Cost-benefit Analysis of Massive Screening for Inborn Errors of Metabolism in Korea.

Outcome of Hematopoietic Cell Transplantation for DNA-Double Strand Breakage Repair Disorders.

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.

Updates on new monogenic inborn errors of immunity

Human Inborn Errors of Immunity (HIEI): predominantly antibody deficiencies (PADs): if you suspect it, you can detect it