Results 191 to 200 of about 165,809 (261)

Timing and Indications for Liver Transplantation for Children with Chronic Liver Disease. [PDF]

Children (Basel)
Suthantirakumar RL, Gupte GL.
europepmc   +1 more source

International Survey on Phenylketonuria Newborn Screening. [PDF]

Int J Neonatal Screen
Trampuž D, Schielen PCJI, Zetterström RH, Scarpa M, Feillet F, Kožich V, Tangeraas T, Drole Torkar A, Mlinarič M, Perko D, Remec ŽI, Lampret BR, Battelino T, Isns Study Group On Pku, van Spronsen FJ, Bonham JR, Grošelj U.   +16 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

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

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

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

Screening tests for inborn errors of metabolism associated with mental retardation [PDF]

, 1967
Langhus, Shirley Ann
core   +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

Clinical evaluation of determinations of free and serum protein bound triiodthyronine (dextran gel filtration) [PDF]

, 1965
Heinze, H. G., Landgraf, R., Schwarz, K., Scriba, Peter Christian   +3 more
core  

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