Results 151 to 160 of about 4,590,707 (207)

Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification. [PDF]

Orphanet J Rare Dis
Fatima T, Khan J, Al-Jasmi F, Alblooshi H.   +3 more
europepmc   +1 more source

Amelioration of the neurological phenotype in PKU mouse model emphasizes the potential of base editing for metabolic diseases. [PDF]

Mol Ther Adv
Keskinen T, Hyvönen ME.
europepmc   +1 more source

Evaluation of a Targeted LC-MS/MS Assay for Clinical Quantification of Urinary Organic Acids. [PDF]

J Mass Spectrom
Daniel EJP, Garnett E, Rajapakshe D, Devaraj S.   +3 more
europepmc   +1 more source

A Variant in Abhydrolase Domain Containing 14A (<i>ABHD14A</i>) and the Suspicion of Aminoacylase 1 (<i>ACY1</i>) Deficiency. [PDF]

JIMD Rep
Klaas L, López-Martín E, Martinez-Delgado B, de la Paz MP, Ribes A, Sass JO.   +5 more
europepmc   +1 more source

Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis. [PDF]

Metabolites
Mutamuliza J, Gori E, Mutesa L, Debray FG.   +3 more
europepmc   +1 more source

Role of the Gut-Liver-Kidney Axis in Disease Manifestation and Biomarker Alterations. [PDF]

Int J Mol Sci
Mashima R, Ishige N.
europepmc   +1 more source

A Systematic Bioinformatic Analysis of the miRNA Pathway in Inborn Errors of Amino Acid Metabolism Disorders. [PDF]

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

Health education needs of pregnant women regarding newborn inborn errors of metabolism based on a social ecological model: a qualitative study. [PDF]

Front Public Health
Yang H, He F, Xia D, Wang X, Guan Y, Liu H.   +5 more
europepmc   +1 more source

Amino Acid Deficiency Secondary to Continuous Venovenous Hemofiltration in Acute Decompensation of Organic Acidemias: An Anabolic Dead End? [PDF]

Crit Care Explor
Grosyeux C, Cammiciotto N, Jeannesson E, Feigerlova E, Villada V, Wicker C, Levy M, Schiff M, Imbard A, Coelho D, Feillet F, Wiedemann A.   +11 more
europepmc   +1 more source

Fully Automated Serum LC-MS/MS Platform and Pediatric Reference Intervals for Organic Acids, Amino Acids, and Acylcarnitines in Children (Ages 0-6 Years): Toward Quantitative Diagnosis of Inborn Errors of Metabolism. [PDF]

Diagnostics (Basel)
Ueyanagi Y, Setoyama D, Nakanishi T, Mushimoto Y, Tocan V, Kobayashi H, Matsui M, Matsumoto S, Fujishima A, Hotta T, Sakata A, Kunisaki Y.   +11 more
europepmc   +1 more source