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The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
Free accessOnline Contents | 2017|Keywords: Inborn errors of immunity -
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee
Free accessOnline Contents | 2021|Keywords: Inborn errors of immunity -
Allelic spectrum of formiminotransferase‐cyclodeaminase gene variants in individuals with formiminoglutamic aciduria
Free accessWiley | 2017|Keywords: inborn errors of metabolism -
Mutations in foregut SOX2+ cells induce efficient proliferation via CXCR2 pathway
Free accessBASE | 2019|Keywords: Errors congènits del metabolisme, Inborn errors of metabolism -
Genetic Mosaicism as a Cause of Inborn Errors of Immunity
Free accessOnline Contents | 2021|Keywords: Inborn errors of immunity -
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis
Free accessOnline Contents | 2022|Keywords: Inborn errors of immunity -
Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review
Free accessOnline Contents | 2021|Keywords: Inborn errors of metabolism -
Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre
Free accessOnline Contents | 2022|Keywords: Inborn errors of metabolism -
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review
Free accessOnline Contents | 2018|Keywords: Inborn errors of metabolism -
Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines
Free accessWiley | 2023|Keywords: inborn errors -
Chemokine C-C motif ligand 2 overexpression drives tissue-specific metabolic responses in the liver and muscle of mice
Free accessBASE | 2020|Keywords: Errors congènits del metabolisme, Inborn errors of metabolism -
Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains
Free accessOnline Contents | 2022|Keywords: Inborn errors of immunity -
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
Free accessOnline Contents | 2020|Keywords: inborn errors of immunity -
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Free accessBASE | 2021|Keywords: inborn errors of metabolism -
Toll-Like Receptor Signaling in the Establishment and Function of the Immune System
Free accessDOAJ | 2021|Keywords: inborn errors of immunity -
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
Free accessOnline Contents | 2020|Keywords: inborn errors of immunity -
Metabolomics: A challenge for detecting and monitoring inborn errors of metabolism.,Il ruolo della metabolomica nella diagnosi e nel monitoraggio delle malattie metaboliche ereditarie
Free accessBASE | 2019|Keywords: inborn errors of metabolism -
How to recognize inborn errors of immunity in a child presenting with a malignancy: guidelines for the pediatric hemato-oncologist
Free accessTaylor & Francis Verlag | 2023|Keywords: Inborn errors of immunity -
A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency
Free accessOnline Contents | 2020|Keywords: Inborn errors of immunity -
Plasma phospholipidomic profile differs between children with phenylketonuria and healthy children
Free accessBASE | 2022|Keywords: Inborn errors of metabolism
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