Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Enzo Ranieri"'
Autor:
Natasha Heather, Ronda F. Greaves, Kaustuv Bhattacharya, Lawrence Greed, James Pitt, Carol Wai-Kwan Siu, Mark de Hora, Ricky Price, Enzo Ranieri, Tiffany Wotton, Dianne Webster
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 47 (2024)
A greater number of screened conditions is often considered to equate to better screening, whereas it may be due to conditions being counted differently. This manuscript describes a harmonised Australasian approach to listing target conditions found
Externí odkaz:
https://doaj.org/article/70b1748652df47b9b45550103cd1e7dd
Autor:
Alex J. Ashenden, Ayesha Chowdhury, Lucy T. Anastasi, Khoa Lam, Tomas Rozek, Enzo Ranieri, Carol Wai-Kwan Siu, Jovanka King, Emilie Mas, Karin S. Kassahn
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 42 (2024)
Newborn screening programs have seen significant evolution since their initial implementation more than 60 years ago, with the primary goal of detecting treatable conditions within the earliest possible timeframe to ensure the optimal treatment and o
Externí odkaz:
https://doaj.org/article/82f9d5cf91b5471e9cd48023797b39a0
Autor:
Giancarlo la Marca, Rachel. S. Carling, Stuart. J. Moat, Raquel Yahyaoui, Enzo Ranieri, James. R. Bonham, Peter. C. J. I. Schielen
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 1, p 15 (2023)
In 1963, Robert Guthrie’s pioneering work developing a bacterial inhibition assay to measure phenylalanine in dried blood spots, provided the means for whole-population screening to detect phenylketonuria in the USA. In the following decades, NBS b
Externí odkaz:
https://doaj.org/article/ea474028af7b4a3683053a2f5ddc81ff
Autor:
Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T. Turgeon, Frédérick M. Vaz, Li-yun Wang, Dietrich Matern
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 4, p 62 (2022)
Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the MS/MS applications in NBS, t
Externí odkaz:
https://doaj.org/article/41ab3a50602847f5af0ca36577a457d0
Autor:
Francyne Kubaski, Inês Sousa, Tatiana Amorim, Danilo Pereira, Joe Trometer, Alexandre Souza, Enzo Ranieri, Giulia Polo, Alberto Burlina, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, Shunji Tomatsu, Roberto Giugliani
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 4, p 90 (2020)
Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming for the prevention of irrevers
Externí odkaz:
https://doaj.org/article/01ff3408062c478581a881d4417caec0
Publikováno v:
International Journal of Neonatal Screening, Vol 5, Iss 1, p 1 (2018)
All worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is performed as a first-tier test by measurement of lysosomal enzymatic activities in dried blood spots (DBS). The currently two available methodologies used for measurement
Externí odkaz:
https://doaj.org/article/9ca2dff290c9465a8b94b1cc485555c2
Publikováno v:
Mediators of Inflammation, Vol 2013 (2013)
Prostaglandin (PG)D2 has been shown to be an active agent in the resolution of experimentally induced inflammation. This study was undertaken to determine the presence of PGD2 in chronic joint effusions and to explore the potential contributions of d
Externí odkaz:
https://doaj.org/article/a9843b54ec5e44ec8eb383246ef2e692
Publikováno v:
Journal of Paediatrics and Child Health. 58:630-635
Several studies have demonstrated a high incidence of autistic spectrum features in individuals with Smith-Lemli-Opitz syndrome (SLOS). However, do these findings imply a converse relationship that has diagnostic utility? Is SLOS testing implicated w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca2e9956d01a643874f11efc3a786679
https://doi.org/10.1111/jpc.15795
https://doi.org/10.1111/jpc.15795
Autor:
Tony Huynh, Ronda Greaves, Nazha Mawad, Lawrence Greed, Tiffany Wotton, Veronica Wiley, Enzo Ranieri, Wayne Rankin, Jacobus Ungerer, Ricky Price, Dianne Webster, Natasha Heather
Publikováno v:
Clinical chemistry and laboratory medicineReferences. 60(10)
Objectives Since its implementation 50 years ago in Quebec, Canada, newborn screening for congenital hypothyroidism has become one of the most successful public health measures worldwide. Screening programmes across Australia and New Zealand are char
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ef983e22d16d0ce44d0b6b3cf7a10a1
https://pubmed.ncbi.nlm.nih.gov/35998658
https://pubmed.ncbi.nlm.nih.gov/35998658
Autor:
Wan Chin Liaw, Janice M. Fletcher, Peter Sharp, Matilda R. Jackson, Xiaodan Ding, Chun Ong, Xenia Kaidonis, Enzo Ranieri, Sharon Byers, Ainslie L.K. Derrick-Roberts
Publikováno v:
Molecular Genetics and Metabolism. 131:197-205
The cause of neurodegeneration in MPS mouse models is the focus of much debate and what the underlying cause of disease pathology in MPS mice is. The timing of development of pathology and when this can be reversed or impacted is the key to developin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d807843dcbe6d556c2ee4f944e700636
https://doi.org/10.1016/j.ymgme.2020.07.006
https://doi.org/10.1016/j.ymgme.2020.07.006