Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Nathalie Lepage"'
Autor:
Lawrence Fisher, Nathalie Lepage, Herman J. ten Brink, Christine Davies, Osama Y. Al-Dirbashi, Pranesh Chakraborty
Publikováno v:
Clinical Biochemistry, 54, 131-138. Elsevier Inc.
Fisher, L, Davies, C, Al-Dirbashi, O Y, ten Brink, H J, Chakraborty, P & Lepage, N 2018, ' A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry ', Clinical Biochemistry, vol. 54, pp. 131-138 . https://doi.org/10.1016/j.clinbiochem.2018.01.020
Fisher, L, Davies, C, Al-Dirbashi, O Y, ten Brink, H J, Chakraborty, P & Lepage, N 2018, ' A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry ', Clinical Biochemistry, vol. 54, pp. 131-138 . https://doi.org/10.1016/j.clinbiochem.2018.01.020
Background Several acylcarnitines used as primary markers on dried blood filter papers (DBS) for newborn screening lack specificity and contribute to a higher false positive rate. The analysis of urine acylglycines is useful in the diagnosis of inbor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::068d725c58674c00c222ebe7b65e8c42
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85041581220&origin=inward
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85041581220&origin=inward
Autor:
Vishal Saxena, Nathalie Lepage, Marc Ekker, Kate Daniel, Alex MacKenzie, Izabella A. Pena, Pranesh Chakraborty, David A. Dyment, Kym M. Boycott, Devon L. Johnstone, Hellen Weinschutz Mendes, Yann Roussel, Marjolein Bosma, Tuan V. Bui, Clara D.M. van Karnebeek, Kevin Mongeon, Nanda M. Verhoeven-Duif
Publikováno v:
Genetics, 207(4), 1501. Genetics Society of America
Genetics, 207(4), 1501-1518. Genetics Society of America
Genetics
Genetics, 207(4), 1501-1518. Genetics Society of America
Genetics
Pyridoxine-dependent epilepsy (PDE) is a severe neonatal seizure disorder and is here modeled in aldh7a1 -/- zebrafish. Mutant larvae display spontaneous..
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the l
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f920ed81f236cc0c5a8ec6cd8e2d411
https://doi.org/10.1534/genetics.117.300137
https://doi.org/10.1534/genetics.117.300137
Autor:
Nathalie Lepage, Michael Kadour, Vipin Bhayana, Manjula Gowrishankar, Ola Z. Ismail, Guido Filler
Publikováno v:
Clinical Biochemistry. 50:380-384
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6fde0a89d28dd19510a429144cf1cad
https://doi.org/10.1016/j.clinbiochem.2017.01.005
https://doi.org/10.1016/j.clinbiochem.2017.01.005
Autor:
Glenn E, Palomaki, Philip, Wyatt, Robert Glen, Best, Nathalie, Lepage, Edward R, Ashwood, Rhona J, Souers, John A, Thorson
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(4)
Summarize and interpret results from exercises distributed to laboratories offering cell-free (cf) DNA screening for Down syndrome.The College of American Pathologists distributed three patient-derived plasma specimens twice in 2018. Sequencing platf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2af75c46d18c0935ff31c3e4d7a8715e
https://pubmed.ncbi.nlm.nih.gov/31929509
https://pubmed.ncbi.nlm.nih.gov/31929509
Autor:
Nathalie Lepage, Izabella A. Pena, Eric Samarut, Kit-Yi Leung, Pierre Drapeau, Kyriakie Sarafoglou, Nicolas D.E. Greene, Raphaëlle Riché, Meijiang Liao, Lisa A. Schimmenti
Publikováno v:
JCI Insight. 3
Glycine encephalopathy (GE), or nonketotic hyperglycinemia (NKH), is a rare recessive genetic disease caused by defective glycine cleavage and characterized by increased accumulation of glycine in all tissues. Here, based on new case reports of GLDC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e39ea84cfc4cffa67985ccbaf6b722dc
https://doi.org/10.1172/jci.insight.124642
https://doi.org/10.1172/jci.insight.124642
Autor:
Jacek Majewski, Nanda M. Verhoeven-Duif, Wyeth W. Wasserman, Ido P. Kema, Yoko Ito, Laufey Yr Sigurdardottir, Georgianne L. Arnold, Erica H. Gerkes, Megan T. Cho, Izabella A. Pena, Tuan Bui, Clara D.M. van Karnebeek, Scott Demarest, Ron A. Wevers, Amna Al Futaisi, Matthew A. Lines, Colin J. D. Ross, Ronald J.A. Wanders, Sander M. Houten, M. Rebecca Heiner-Fokkema, Sara Violante, Nicole I. Wolf, Jan M. Friedman, Heather E. Olson, Kevin Ban, Hilal H. Al-Shekaili, Autumn S Ivy, David A. Koolen, Judith J.M. Jans, Elise Brimble, Kristin D. Kernohan, Erik-Jan Kamsteeg, Carlo W.T. van Roermund, Skye McBride, Kym M. Boycott, Devon L. Johnstone, Sandra Noble, Rana Abdelrahim, Yann Roussel, Roshan Koul, Britt I. Drögemöller, Nathalie Lepage, Maartje Boon, Marjolein Bosma, Amber Begtrup, Khalid Al-Thihli, Jolita Ciapaite, Ceres Kosuta, Maja Tarailo-Graovac, Martijn van Faassen, Charlotte A. Haaxma, Marc Ekker, David A. Dyment
Publikováno v:
Brain, 142, 542-559
Brain, 142, 542-559. Oxford University Press
Brain : a journal of neurology, 142(3), 542. Oxford University Press
Brain, 142, 3, pp. 542-559
Brain, 142, 542-559. Oxford University Press
Brain : a journal of neurology, 142(3), 542. Oxford University Press
Brain, 142, 3, pp. 542-559
Contains fulltext : 202680.pdf (Publisher’s version ) (Closed access) Biallelic pathogenic variants in PLPBP (formerly called PROSC) have recently been shown to cause a novel form of vitamin B6-dependent epilepsy, the pathophysiological basis of wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be1e89237bed452c221234d6971486ad
https://hdl.handle.net/1874/378867
https://hdl.handle.net/1874/378867
Autor:
Guido Filler, Nathalie Lepage
Publikováno v:
Paediatrics Publications
Je-Hyan Lee et al. have published a study on cystatin C concentrations in the first 30 days of life in 127 pre-term and 119 term neonates in this edition of Pediatric Nephrology, thereby closing a knowledge gap of detailed cystatin C concentrations b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e38f4a172cc85ca9c7dbd8dae8fa12db
https://doi.org/10.1007/s00467-013-2428-5
https://doi.org/10.1007/s00467-013-2428-5
Autor:
Ola Z, Ismail, Vipin, Bhayana, Michael, Kadour, Nathalie, Lepage, Manjula, Gowrishankar, Guido, Filler
Publikováno v:
Clinical biochemistry. 50(7-8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::65b46635f871dbbb92642c17690d997f
https://pubmed.ncbi.nlm.nih.gov/28088453
https://pubmed.ncbi.nlm.nih.gov/28088453
Publikováno v:
Clinical Biochemistry. 44:1156-1159
Objective To determine the reference intervals for serum cystatin C (CysC) and beta-trace protein (BTP) as markers of renal function in preterm and term neonates. Design and Methods Blood samples of 128 neonates (34% female) admitted to the NICU were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::714129774e22e40474af91147be70266
https://doi.org/10.1016/j.clinbiochem.2011.06.987
https://doi.org/10.1016/j.clinbiochem.2011.06.987
Publikováno v:
Pediatric Transplantation. 15:760-765
Tsampalieros A, Lepage N, Feber J. Intraindividual variability of the modified Schwartz and novel CKiD GFR equations in pediatric renal transplant patients. Pediatr Transplantation 2011: 15: 760–765. © 2011 John Wiley & Sons A/S. Abstract: GFR in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d5bd24a980a248dc56703c19ea2a7bf
https://doi.org/10.1111/j.1399-3046.2011.01568.x
https://doi.org/10.1111/j.1399-3046.2011.01568.x