Results 1 to 10 of about 19,497 (183)

Inborn errors of metabolism in neonates and pediatrics on varying dialysis modalities: a systematic review and meta-analysis. [PDF]

Pediatr Nephrol
Raina M, Doshi K, Myneni A, Tibrewal A, Gillen M, Hu J, Bunchman TE.   +6 more
europepmc   +1 more source

Prediction of inherited metabolic disorders using tandem mass spectrometry data with the help of artificial neural networks. [PDF]

Turk J Med Sci
Soylu Üstkoyuncu P, Üstkoyuncu N.
europepmc   +1 more source

Expanded Newborn Screening in Italy: The First Report of Lombardy Region. [PDF]

Int J Neonatal Screen
Berardo C, Vasco A, Mauri A, Lucchi S, Cappelletti L, Saielli L, Rizzetto M, Biganzoli D, Montrasio C, Postorivo D, Pratiffi E, Meta A, Carelli S, Amorosi A, Paci S, Cefalo G, Furlan F, Menni F, Gasperini S, Crescitelli V, Banderali G, Zuccotti G, Alberti L, Cereda C.   +23 more
europepmc   +1 more source

Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening. [PDF]

Front Public Health
Lai G, Gu Q, Lai Z, Chen H, Tu X, Chen J, Huang J.   +6 more
europepmc   +1 more source

LC-MS-Based Simultaneous Determination of Biomarkers in Dried Urine Spots for the Detection of Cofactor-Dependent Metabolic Disorders in Neonates. [PDF]

J Sep Sci
Raveendran A, Gupta A, Lewis LE, Prabhu K, Moorkoth S.   +4 more
europepmc   +1 more source

The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment. [PDF]

Orphanet J Rare Dis
Dallan A, Reynolds G, Canavese C, Carli D, Luca M, Gazzin A, Spada M, Porta F, Mussa A.   +8 more
europepmc   +1 more source

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails. [PDF]

Ital J Pediatr
Gragnaniello V, Puma A, Gueraldi D, D'Errico I, Cazzorla C, Loro C, Porcù E, Salviati L, Burlina AB.   +8 more
europepmc   +1 more source

Incidence of Inborn Errors of Metabolism and Endocrine Disorders Among 40965 Newborn Infants at Riyadh Second Health Cluster of the Ministry of Health Saudi Arabia. [PDF]

Int J Neonatal Screen
Alshehri AS, Peer-Zada AA, Algadhi AA, Aldehaimi A, Saleh MA, Mushiba AM, Faqeih EA, AlAsmari AM.   +7 more
europepmc   +1 more source

Food for Special Medical Purposes: A Global Review of Usage Trends, Regulatory Frameworks, and Key Growth Drivers. [PDF]

Clin Nutr Res
Kang HJ, Park YK.
europepmc   +1 more source

Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials. [PDF]

Neurotherapeutics
D'Silva A, Barnes J, Djafar J, Bhattacharya K, Yan J, Mohammad S, Bandodkar S, Johnson A, Tchan M, Miteff C, Elvidge KL, Dale RC, Farrar M.   +12 more
europepmc   +1 more source