Results 161 to 170 of about 1,245,890 (249)

WS7.5 Lung function and structure in CF infants diagnosed through newborn screening (NBS)

Journal of Cystic Fibrosis, 2012
Thia, L.P., Calder, A., Owens, C., Hoo, A.F., Nguyen, T.T.D., Wallis, C., Bush, A., Stocks, J.   +7 more
openaire   +1 more source

Optimizing Informed Consent for Australian Newborn Bloodspot Screening and Research: Consensus Workshop Insights and Recommendations. [PDF]

Int J Neonatal Screen
Mazariego C, Ramanathan M, Johnston DA, Li Z, McGill BC, Okamura M, Kelada L, Juraskova I, Wakefield CE, Taylor N.   +9 more
europepmc   +1 more source

356 Newborn screening (NBS) facilitates diagnosis of previously unrecognised CF in older siblings

Journal of Cystic Fibrosis, 2007
Skalicka, V., Fischerova, T., Bohmova, K., Balascakova, M., Zemkova, D., Votava, F., Macek, M., Vavrova, V.   +7 more
openaire   +1 more source

Attitudes Toward Sex-Specific Versus Universal Newborn Screening for X-Linked Adrenoleukodystrophy in Hong Kong. [PDF]

Int J Neonatal Screen
Mak CM, Wu HY, Wong AY, Song FE, Chan TCH, Fung CW, Wong SN, Hau EWL, Yeung MCW.   +8 more
europepmc   +1 more source

Nationwide TREC/KREC-based newborn screening and clinical outcomes in Japan. [PDF]

J Hum Immun
Nishinosono T, Muramatsu H, Wakamatsu M, Ishige N, Hanai J, Imaizumi T, Ueki M, Sasahara Y, Kawai T, Uejima Y, Yasumi T, Okada S, Eguchi M, Ishimura M, Mizukami T, Yamada M, Ohnishi H, Tajima G, Imai K, Newborn Screening Working Group, Japanese Society for Immunodeficiency and Autoinflammatory Diseases.   +20 more
europepmc   +1 more source

Optimizing Kappa-Deleting Recombination Excision Circles (KREC) Cut-Off Values in Russian Newborn Screening Program: Balancing Sensitivity and False-Positive Rates. [PDF]

Int J Neonatal Screen
Marakhonov A, Mukhina A, Efimova I, Balinova N, Rodina Y, Zinchenko R, Voronin S, Shcherbina A, Kutsev S.   +8 more
europepmc   +1 more source

Clinical characteristics of infants diagnosed through cystic fibrosis newborn screening (CF NBS)

Journal of Cystic Fibrosis, 2009
Sands, D., Zybert, K., Oltarzewski, M., Sobczynska-Tomaszewska, A., Nowakowska, A., Walicka, K., Wertheim, K., Piotrowski, R.   +7 more
openaire   +1 more source

Glutaric aciduria type 1 as a mimicker of abusive head trauma in the era of newborn screening. [PDF]

Child Abuse Negl
Lang SH, Shanghvi D, Divin K, Donaruma M, Sutton VR, Bachim A.   +5 more
europepmc   +1 more source

320 Changes in anthropometrical parameters in infants with CF diagnosed through newborn screening (NBS)

Journal of Cystic Fibrosis, 2017
A. Jokic Miletic, G. Vilotijevic-Dautovic, S. Cegar, S. Petrovic, S. Ilic, D. Tenjovic   +5 more
openaire   +1 more source

Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases. [PDF]

Int J Neonatal Screen
Meijer NWF, Koop K, Maase RE, Hall PL, Visser WF, Oussoren E, Bosch AM, Heiner-Fokkema MR, de Sain-van der Velden MGM.   +8 more
europepmc   +1 more source