Results 121 to 130 of about 3,221 (198)

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +5 more
europepmc   +1 more source

Efficacy and organ protective effects of continuous renal replacement therapy in children with organic acidemia complicated by decompensated acidosis: a retrospective study in PICU. [PDF]

Orphanet J Rare Dis
Xing L, Zhu Y, Han L, Xu L, Li J, Xu J, Zhu X.   +6 more
europepmc   +1 more source

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders [PDF]

core   +1 more source

Neuroimaging in Inborn Errors of Metabolism [PDF]

, 2012
Carlos Casimiro, Isabel Fineza, Luísa Diogo, Miguel Cordeiro, Paula Garcia, Teresa Garcia   +5 more
core   +1 more source

First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant. [PDF]

Orphanet J Rare Dis
Parvini F, Ajam-Hosseini M, Shadpour M.
europepmc   +1 more source

Delayed Diagnosis of Glutaric Aciduria Type 1: A Case Report. [PDF]

Cureus
Larancuent CE, Weiler T, Kana SL.
europepmc   +1 more source

Implementation Timeframes for the Addition of New Conditions to Newborn Bloodspot Screening Programmes: A Scoping Review. [PDF]

Int J Neonatal Screen
Brennan MM, O'Connell A, O'Grady L, Elsammak M, Brady JJ, Marsden P, Burns H, Collins A.   +7 more
europepmc   +1 more source

Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024. [PDF]

Front Pediatr
Ou MM, Sun CT, Zhang L, Kong LL, Zhang LX, Zheng J, Zhang PY, Wang YM, Lin XF, Yang X.   +9 more
europepmc   +1 more source

Neurocognitive characterization and academic impact in pediatric patients belonging to the national registry of GA-1. [PDF]

Orphanet J Rare Dis
Berta ZC, Zaida MR, de Aragón Ana M, Noemí NE, Manuela MB, Raquel V, Delia B, Marcello B, Elena MH, Pilar QF.   +9 more
europepmc   +1 more source

SIRT5, functions in cellular metabolism with a multiple enzymatic activities [PDF]

core   +1 more source