Results 91 to 100 of about 19,908 (200)

TFRC Germline Variants and Inborn Error of Immunity: Mechanistic Insights into Iron-Immune Crosstalk. [PDF]

J Clin Immunol
Aljohani AH.
europepmc   +1 more source

Lipidomic Signatures in Pediatric Metabolic Disorders. [PDF]

Metabolites
Narvaez-Rivas M, Setchell KDR.
europepmc   +1 more source

Dietary Inflammatory Index and Nutritional Status in Children with Inborn Errors of Metabolism on Protein-Restricted Diets. [PDF]

Nutrients
Aktaş E, Çiçek B, Okur I, İnci A, Tümer L.   +4 more
europepmc   +1 more source

Mitochondrial HMG-CoA Synthase Deficiency Presenting as Pediatric Metabolic Stroke: A Case Report of a Novel Homozygous HMGCS2 (p.Ile56Asn) Variant. [PDF]

Clin Case Rep
Alshami Y, Hroub O, Hroub M, Abouodeh S, Makhamre Z, Hammouri AG, Alzatari I, Atawneh O.   +7 more
europepmc   +1 more source

Perioperative management of pediatric patients with inborn errors of metabolism during liver transplantation. [PDF]

World J Transplant
Paulin S, Rajakumar A, Menon J, Shanmugam N, Rela M.   +4 more
europepmc   +1 more source

mRNA therapy as primary and bridge therapy for inborn errors of metabolism. [PDF]

Mol Ther
Vockley J.
europepmc   +1 more source

Comparative Small RNA Sequencing Reveals Candidate Functional miRNAs in Nonketotic Hyperglycinemia. [PDF]

Mol Syndromol
Bayrak H, Sharafi P, Özketen AÇ, Kılıç M.   +3 more
europepmc   +1 more source

A Gut Feeling: An Exploratory Multi-Omics Study of Gut Microbiome Dysbiosis and Metabolome and Lipidome Alterations in GATA2 Deficiency. [PDF]

Int J Mol Sci
Roncareggi S, Fioredda F, Girardi K, Serrao S, Capitoli G, Fumagalli R, Nobile M, Fazio G, Guerra F, Valsecchi MG, Rebellato S, Casillo M, Fantuz MR, Savarese G, Paglia G, Gambineri E, Balduzzi AC, Biondi A, Saettini F, Italian GATA2 Study Group.   +19 more
europepmc   +1 more source

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors. [PDF]

J Inherit Metab Dis
Lamari F, Rossignol F, Mitchell GA.
europepmc   +1 more source

Four doses of coronavirus disease 2019 vaccination for patients with inborn errors of immunity compared to 3 doses for healthy individuals. [PDF]

J Allergy Clin Immunol Glob
Chan JCH, Cheng SMS, Leung D, Wang X, Wang M, Cheuk YC, Ho C, Tsang LCH, Kwan TC, Lee AMT, Li WY, Lam JHY, Zhang K, Tam IYS, Chan SM, Chan KW, Peiris M, Tu W, Lau YL, Rosa Duque JS.   +19 more
europepmc   +1 more source