Metabolic profile of amniotic fluid as a biochemical tool to screen for inborn errors of metabolism and fetal anomalies

[1]  António S. Barros,et al.  Impact of prenatal disorders on the metabolic profile of second trimester amniotic fluid: a nuclear magnetic resonance metabonomic study. , 2010, Journal of proteome research.

[2]  M. L. Cardoso,et al.  Quantitative analysis of five sterols in amniotic fluid by GC-MS: application to the diagnosis of cholesterol biosynthesis defects. , 2010, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

[3]  D. Rabier,et al.  Gestational age‐related reference values for amniotic fluid organic acids , 2010, Prenatal diagnosis.

[4]  J. Kurhanewicz,et al.  Quantitative metabolic profiles of 2nd and 3rd trimester human amniotic fluid using 1H HR-MAS spectroscopy , 2009, Magnetic Resonance Materials in Physics, Biology and Medicine.

[5]  J. Bierau,et al.  Quantitative UPLC-MS/MS analysis of underivatised amino acids in body fluids is a reliable tool for the diagnosis and follow-up of patients with inborn errors of metabolism. , 2009, Clinica chimica acta; international journal of clinical chemistry.

[6]  António S. Barros,et al.  (1)H NMR based metabonomics of human amniotic fluid for the metabolic characterization of fetus malformations. , 2009, Journal of proteome research.

[7]  K. Koski,et al.  Identification and quantitation of human amniotic fluid components using capillary zone electrophoresis. , 2009, Analytical biochemistry.

[8]  G. Maroulis,et al.  Undiagnosed maternal phenylketonuria: own clinical experience and literature review , 2009, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

[9]  K. Koski,et al.  Second trimester amniotic fluid transferrin and uric acid predict infant birth outcomes , 2008, Prenatal diagnosis.

[10]  Manfred Spraul,et al.  Metabolite profiling of human amniotic fluid by hyphenated nuclear magnetic resonance spectroscopy. , 2008, Analytical chemistry.

[11]  T. Kuhara,et al.  Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS. , 2008, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

[12]  F. R. A. Aquino Neto,et al.  Uric acid changes in urine and plasma: An effective tool in screening for purine inborn errors of metabolism and other pathological conditions , 2007, Journal of Inherited Metabolic Disease.

[13]  M. Martínez,et al.  Amino acids in amniotic fluid in the 15th–16th weeks of gestation and preterm labor , 2007, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

[14]  Anne-Lise Bjørke Monsen,et al.  Mid-trimester amniotic fluid methionine concentrations: a predictor of birth weight and length. , 2006, Metabolism: clinical and experimental.

[15]  F. Bellia,et al.  Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. , 2005, Clinical biochemistry.

[16]  P. O'Leary,et al.  Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism , 2005, Journal of paediatrics and child health.

[17]  C. Azen,et al.  Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: the importance of strict dietary control preconception and throughout pregnancy. , 2004, The Journal of pediatrics.

[18]  A. Griesmacher,et al.  Purine and pyrimidine metabolites in children's urine. , 2003, Clinica chimica acta; international journal of clinical chemistry.

[19]  J. Pitt,et al.  Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry. , 2002, Clinical chemistry.

[20]  F. R. Oliveira,et al.  Biochemical profile of amniotic fluid for the assessment of fetal and renal development. , 2002, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

[21]  T. Adam,et al.  Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism: A selective approach , 2002, Electrophoresis.

[22]  A. van Dalen,et al.  Validation of the determination of amino acids in plasma by high-performance liquid chromatography using automated pre-column derivatization with o-phthaldialdehyde. , 1995, Journal of chromatography. B, Biomedical applications.

[23]  Zhang Lefeng,et al.  Direct determination of phenylalanine in serum extracts of phenylketonuria patients by reversed-phase high-performance liquid chromatography. , 1983 .

[24]  M. Hilton.  Liquid-chromatographic direct determination of phenylalanine and tyrosine in serum or plasma, with application to patients with phenylketonuria. , 1982, Clinical chemistry.

[25]  C. Isaacs,et al.  The Effects of Hyperphenylalaninemia on Fetal Development: a New Animal Model of Maternal Phenylketonuria , 1982, Pediatric Research.

[26]  M. Bennett,et al.  Urine organic acid analysis for inherited metabolic disease using gas chromatography-mass spectrometry. , 2010, Methods in molecular biology.

[27]  Y. -. Yu,et al.  Direct determination of phenylalanine in serum extracts of phenylketonuria patients by reversed-phase high-performance liquid chromatography. , 1983, Journal of chromatography.