Results 221 to 230 of about 167,513,957 (289)

A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From LPIN1 Deficiency and PPA2 Deficiency in Queensland

Journal of Paediatrics and Child Health, EarlyView.
Sophie Manoy, Sally Smith, Marita Smith, Catherine Atthow, Janette Spicer, Matthew Lynch, Michelle Lipke, Julie A. McEniery, David Coman, Anita Inwood, Jim McGill, Carolyn Bursle   +11 more
wiley   +1 more source

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

Mol Ther
Vockley J.
europepmc   +1 more source

The Digital Native Paradox: A Framework for Critical Appraisal of Generative AI in Paediatric Medical Education

Journal of Paediatrics and Child Health, EarlyView.
Richard G. McGee
wiley   +1 more source

Editorial: Nutritional management of patients with inborn errors of metabolism. [PDF]

Front Nutr
Pedrón-Giner C, Aldamiz-Echevarria L, Couce ML.   +2 more
europepmc   +1 more source

Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature. [PDF]

Mol Genet Metab Rep
De Preter A, Rochtus A, Witters P, Rymen D.   +3 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

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat! [PDF]

J Inherit Metab Dis
den Hollander B, Hoytema van Konijnenburg EMM, Hewitson B, van der Meijden JC, Balfoort BM, Winter B, Müller AR, Wasserman WW, Ferreira CR, van Karnebeek CD.   +9 more
europepmc   +1 more source

Early Mortalities From Inborn Errors of Metabolism Detected By Selective Screening in Malaysia. [PDF]

Sage Open Pediatr
Habib A, Abdul Malik NA, Abu Yamin AH, Abdul Rahman S, Apparow S, Wan Mahiyuddin WR, Yakob Y, Lock Hock N.   +7 more
europepmc   +1 more source

Steroidomics via Gas Chromatography-Mass Spectrometry (GC-MS): A Comprehensive Analytical Approach for the Detection of Inborn Errors of Metabolism. [PDF]

Life (Basel)
Chiara F, Allegra S, Liuzzi S, Puccinelli MP, Mengozzi G, De Francia S.   +5 more
europepmc   +1 more source

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China. [PDF]

PeerJ
Zhu J, Han L, Yang P, Feng Z, Xue S.
europepmc   +1 more source