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A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene

Autor: U. Holwerda, Desirée E.C. Smith, Gajja S. Salomons, J. G. Loeber, Warsha A. Kanhai, Ana Pop, P. C. J. I. Schielen, Saadet Mercimek-Mahmutoglu, M. Fernandez Ojeda

Publikováno v: Mercimek-Mahmutoglu, S, Pop, A, Kanhai, W, Ojeda, M F, Holwerda, U, Smith, D E C, Loeber, J G, Schielen, P C J I & Salomons, G S 2016, ' A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene ', Gene, vol. 575, no. 1, pp. 127-131 . https://doi.org/10.1016/j.gene.2015.08.045
Gene, 575(1), 127-131. Elsevier

Background GAMT deficiency is an autosomal recessive disorder of creatine biosynthesis causing developmental delays or intellectual disability in untreated patients as a result of irreversible brain damage occurring prior to diagnosis. Normal neurode

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4210596e04a85b9402f44531abee98d5
https://doi.org/10.1016/j.gene.2015.08.045

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First-trimester Down syndrome screening performance in the Dutch population; how to achieve further improvement?

Autor: L. H. Elvers, P. C. J. I. Schielen, J. G. Loeber, Ph. Stoutenbeek, E. J. Wortelboer, Gerard H. A. Visser, M. P. H. Koster

Publikováno v: Prenatal Diagnosis. 29:588-592

Objective To study the performance of the first-trimester combined test between 2004 and 2006 compared to a previous period to investigate changes in time and identify reasons for sub-optimal performance. Methods Serum samples were analysed for pregn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bcdef42db4a29b4354f3b58732e624f
https://doi.org/10.1002/pd.2247

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Lack of standardization in determining gestational age for prenatal screening

Autor: L. H. Elvers, M. van Leeuwen-Spruijt, P. Stoutenbeek, J. G. Loeber, Maria P.H. Koster, E. J. Wortelboer, G. H. A. Visser, P. C. J. I. Schielen

Publikováno v: Ultrasound in Obstetrics and Gynecology. 32:607-611

Objectives To determine whether estimation of gestational age (GA) in the context of first-trimester Down syndrome screening is standardized in the Netherlands. Methods This was a retrospective study, carried out between January 2005 and December 200

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6958ce5c060ac0e4150acc7458d7fd69
https://doi.org/10.1002/uog.5347

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Towards a national program for Down syndrome and neural tube defect screening in the Netherlands

Autor: J. G. Loeber, L. H. Elvers, P. C. J. I. Schielen

Publikováno v: International Congress Series. 1279:213-220

A recent change in the Dutch governmental policy gave way to the development of a national program for prenatal screening for Down syndrome and neural tube defects (NTD). Here, we present an overview of the current situation on screening for Down syn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7f1e307007d1d0727f29b05891909414
https://doi.org/10.1016/j.ics.2004.12.054

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Evolution of an influenza pandemic in 13 countries from 5 continents monitored by protein microarray from neonatal screening bloodspots

Publikováno v: Journal of Clinical Virology, 61(1), 74-80. Elsevier

Background: Because of lack of worldwide standardization of influenza virus surveillance, comparison between countries of impact of a pandemic is challenging. For that, other approaches to allow internationally comparative serosurveys are welcome. Ob

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baa08ad36f83ec0aa8833248af2736f7
https://pubmed.ncbi.nlm.nih.gov/25017954

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European collaborative study on luteinizing hormone assay: 2. Discrepancy among assay kits is related to variation both in standard curve calibration and epitope specificity of kit monoclonal antibodies

Autor: S. Costagliola, P. Niccoli, M. Florentino, Pierre Carayon, P. Beck-Peccoz, J. Calaf, J. Rodriguez-Espinosa, J. G. Loeber, P. Luppa, M. Moreira, M. Roger, R. Roulier, J. Smitz, M. Wheeler

Publikováno v: Journal of Endocrinological Investigation. 17:407-416

This report describes the results of the second part of the collaborative study organized by a working group sponsored by the Community Bureau of Reference of the European Community Commission. The whole study was designed to understand the causes of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd4346c03dcf7a912d05925dc57135b5
https://doi.org/10.1007/bf03347727

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Down syndrome screening: determining the cutoff level of risk for invasive testing

Autor: P. C. J. I. Schielen, Hajo I. J. Wildschut, J. G. Loeber

Publikováno v: Prenatal Diagnosis, 29(2), 190-192. John Wiley & Sons Ltd.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8aacaf53cfd7050dcfa7643944bff43
https://pure.eur.nl/en/publications/4bd1e4b3-2301-4849-ab4d-e74b5ba46522

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Fifteen years of triple tests in The Netherlands; the life cycle of a screening test

Autor: J. G. Loeber, E. J. Wortelboer, P. C. J. I. Schielen, M. P. H. Koster, Ph. Stoutenbeek, Gerard H. A. Visser

Publikováno v: Prenatal diagnosis. 28(10)

Objective This report provides an overview of 15 years prenatal screening for Down syndrome (DS). Methods Between 1991 and 2005, blood samples for the triple test were sent for analysis to our laboratory. Test results were considered screen-positive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66cb7b34f14b1d0e58cc6a55275415cf
https://pubmed.ncbi.nlm.nih.gov/18821712

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Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency

Autor: Hans R. Waterham, Theo Boer, L. P. ten Kate, Trijnie Bos, Gerrit Smit, J. M. M. Rondeel, Dirk Reijngoud, Klaziena Niezen-Koning, A. van Assen, Jaap H. Ruiter, J. G. Loeber, Terry G J Derks, R. J. A. Wanders

Publikováno v: Journal of inherited metabolic disease, 31(1), 88-96. Springer Netherlands
Journal of Inherited Metabolic Disease, 31(1), 88-96. Springer Netherlands
Journal of Inherited Metabolic Disease, 31(1), 88-96. SPRINGER
Derks, T G J, Boer, T S, van Assen, A, Bos, T, de Ruiter, J, Waterham, H R, Niezen-Koning, K E, Wanders, R J A, Rondeel, J M M, Loeber, J G, ten Kate, L P, Smit, G P A & Reijngoud, D J 2008, ' Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency ', Journal of Inherited Metabolic Disease, vol. 31, no. 1, pp. 88-96 . https://doi.org/10.1007/s10545-007-0492-3

The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (MS/MS) in The Netherlands, between October 2003 and September 2005. Prospective population-wide

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https://pure.amc.nl/en/publications/neonatal-screening-for-mediumchain-acylcoa-dehydrogenase-mcad-deficiency-in-the-netherlands-the-importance-of-enzyme-analysis-to-ascertain-true-mcad-deficiency(8e383323-b68b-4de7-8b08-2f5dc24aeff2).html

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