Timing and Indications for Liver Transplantation for Children with Chronic Liver Disease. [PDF]
Suthantirakumar RL, Gupte GL.
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International Survey on Phenylketonuria Newborn Screening. [PDF]
Trampuž D+16 more
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Prediction of inherited metabolic disorders using tandem mass spectrometry data with the help of artificial neural networks. [PDF]
Soylu Üstkoyuncu P, Üstkoyuncu N.
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Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening. [PDF]
Lai G+6 more
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The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment. [PDF]
Dallan A+8 more
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LC-MS-Based Simultaneous Determination of Biomarkers in Dried Urine Spots for the Detection of Cofactor-Dependent Metabolic Disorders in Neonates. [PDF]
Raveendran A+4 more
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Screening tests for inborn errors of metabolism associated with mental retardation [PDF]
Langhus, Shirley Ann
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Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails. [PDF]
Gragnaniello V+8 more
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Clinical evaluation of determinations of free and serum protein bound triiodthyronine (dextran gel filtration) [PDF]
Heinze, H. G.+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]
Alshehri AS+7 more
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