Results 201 to 210 of about 1,360,274 (268)

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

Interpreting abnormal severe combined immunodeficiency (SCID) newborn screens: Perinatal predictors and clinical implications. [PDF]

Ann Allergy Asthma Immunol
Katz AR, Ward BR.
europepmc   +1 more source

Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result. [PDF]

Int J Neonatal Screen
González de Aledo-Castillo JM, Casado-Río M, Pajares S, Meavilla Olivas S, Gort L, Martí Sánchez L, Paredes-Fuentes AJ, Pias-Peleteiro L, Gomez-Chiari M, Quintana Vidaurri M, López-Galera RM, Argudo-Ramírez A, Sainz de Medrano J, Artuch Iriberri R, García-Villoria J, Ormazábal Herrero A.   +15 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

Application of CLIR-Based Post-Analytical Tools to Dutch NBS Data Demonstrates Its Potential Impact on the Performance of CPT1, GA-1, IVA and MSUD Screening in a Disorder-Specific Way. [PDF]

Int J Neonatal Screen
Meijer NWF, Maase RE, Hall PL, Visser WF, Koop K, Bosch AM, Heiner-Fokkema MR, de Sain-van der Velden MGM.   +7 more
europepmc   +1 more source

Cost-effectiveness analysis of newborn screening (NBS) for spinal muscular atrophy in Japan

NO TO HATTATSU
Hata, Akira, Uda, Akihito
openaire   +1 more source

Newborn screening for hemoglobinopathies: a review of Canadian data from 2020 to 2023. [PDF]

Paediatr Child Health
Peng S, Ridsdale R, Sosova I, MacNeil L, Lilley M, Marcadier J, Giguère Y, Berthier MT, Chouaibou M, Sinclair G, Liu Z, Van Caeseele P, Bruce A.   +12 more
europepmc   +1 more source

The new frontier of newborn screening: integrating genomics, metabolomics, and data science for inborn errors of metabolism. [PDF]

Orphanet J Rare Dis
Wasim M, Wang Y, Ma G.
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

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