Issue Special Issue 2/2010
Newborn Screening
Content (17 Articles)
Newborn screening—progress and challenges
Georg F. Hoffmann, Veronica Cornejo, Rodney J. Pollitt
Newborn screening for congenital hypothyroidism: improved assay performance has created an evidence gap
Rodney J. Pollitt, Jerry K. Wales
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency
Jean-Louis Dhondt
Newborn screening strategies for congenital hypothyroidism: an update
Stephen H. LaFranchi
Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples
Ralph Fingerhut, Gabriel De Jesus Silva Arevalo, Matthias R. Baumgartner, Johannes Häberle, Marianne Rohrbach, Andrés Weinfeld Ávalos Figueroa, Elena María Dardón Fresse, Olga Leticia Polanco, Toni Torresani
Congenital toxoplasmosis—a report on the Danish neonatal screening programme 1999–2007
Dennis Röser, Henrik Vedel Nielsen, Eskild Petersen, Peter Saugmann-Jensen, Peter Bent Nørgaard-Pedersen
Public health and laboratory considerations regarding newborn screening for congenital cytomegalovirus
Sheila C. Dollard, Mark R. Schleiss, Scott D. Grosse
Cystic fibrosis newborn screening: using experience to optimize the screening algorithm
Jaime E. Hale, Richard B. Parad, Henry L. Dorkin, Robert Gerstle, Allen Lapey, Brian P. O’Sullivan, Terry Spencer, William Yee, Anne Marie Comeau
Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population
Olaf Sommerburg, Martin Lindner, Martina Muckenthaler, Dirk Kohlmueller, Svenja Leible, Reinhard Feneberg, Andreas E. Kulozik, Marcus A. Mall, Georg F. Hoffmann
Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency
Anne Marie Comeau, Jaime E. Hale, Sung-Yun Pai, Francisco A. Bonilla, Luigi D. Notarangelo, Mark S. Pasternack, H. Cody Meissner, Ellen Rae Cooper, Alfred DeMaria, Inderneel Sahai, Roger B. Eaton
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria
Yosuke Shigematsu, Ikue Hata, Go Tajima
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook
Celia J. Angaroni, Alicia N. Giner-Ayala, Lorena P. Hill, Norberto B. Guelbert, Ana E. Paschini-Capra, Raquel Dodelson de Kremer
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
Dau-Ming Niu, Yin-Hsiu Chien, Chuan-Chi Chiang, Hui-Chen Ho, Wuh-Liang Hwu, Shu-Min Kao, Szu-Hui Chiang, Chuan-Hong Kao, Tze-Tze Liu, Hung Chiang, Kwang-Jen Hsiao
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America
Belén Pérez, Celia Angaroni, Rocio Sánchez-Alcudia, Begoña Merinero, Celia Pérez-Cerdá, N. Specola, P. Rodríguez-Pombo, Moacir Wajner, Raquel Dodelson de Kremer, Verónica Cornejo, Lourdes R. Desviat, Magdalena Ugarte
Inborn errors of metabolism in Latin America: challenges and opportunities
Roberto Giugliani