Results 191 to 200 of about 1,245,890 (249)

Pediatrician involvement in communicating positive newborn screening results for Krabbe disease: barriers, facilitators, and ideas for interventions. [PDF]

Orphanet J Rare Dis
Kirkpatrick L, Friel E, Muniz G, Chang JC, Rajan DS.   +4 more
europepmc   +1 more source

Newborn screening versus clinical diagnosis: comparison of nutritional status in children with cystic fibrosis - a longitudinal study. [PDF]

Rev Paul Pediatr
Santos GSFD, Daltro CHDC, D'Souza EL.
europepmc   +1 more source

Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies. [PDF]

J Hum Immun
Duintjer AJ, Blom M, Bredius RGM, Pico-Knijnenburg I, Heuperman A, Hodemaekers H, Imholz S, Dollé MET, Brandsema RB, van de Corput L, Henriet SS, Kuijpers TW, van Montfrans JM, Vermont CL, van Well GTJ, Zonneveld-Huijssoon E, Voorhoeve E, van Gijn ME, van der Burg M.   +18 more
europepmc   +1 more source

Preliminary Data of the First Year of Newborn Screening for Metachromatic Leukodystrophy (MLD) in Lombardy. [PDF]

Int J Neonatal Screen
Vasco A, Meta A, Berardo C, Camerlengo D, Fumagalli F, Tonduti D, Fiamingo I, Montrasio C, Postorivo D, Rizzetto M, Fede S, Mld-Nbs Study Group, Bozic R, Ferron F, Calbi V, Zuccotti G, Aiuti A, la Marca G, Carelli S, Cereda C.   +19 more
europepmc   +1 more source

A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan. [PDF]

Int J Neonatal Screen
Lee T, Matsui M, Yokoyama Y, Bo R, Awano H, Kataoka D, Ueda M, Minato T, Kobayashi H, Hasegawa Y, Murayama K, Takeshima Y.   +11 more
europepmc   +1 more source

Implementation of TREC/KREC Newborn Screening in a High-Birth-Rate Population: A Pilot Study of 5000 Neonates in South Kazakhstan. [PDF]

Int J Neonatal Screen
Abdushukurova G, Auyelova A, Kadyrbayeva B, Ayazbekov A, Mussayeva D, Oshibayeva A, Babayeva K, Khairullina L, Sadykova K, Nuskabaeva G.   +9 more
europepmc   +1 more source

Optimizing TREC- and KREC-based newborn screening: Risk-stratified algorithms significantly reduce referrals. [PDF]

Pediatr Allergy Immunol
Soomann M, Prader S, Sluka S, Pachlopnik Schmid J, Trück J.   +4 more
europepmc   +1 more source

Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction. [PDF]

Int J Neonatal Screen
Mujamammi AH.
europepmc   +1 more source

Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation. [PDF]

Int J Neonatal Screen
Nani D, Mendonça RH, da Graça FF, Pinheiro VRP, Carneireiro M, Farah BG, França MC, Gabetta CS, Polido G, Iwabe C, Monfardini F, Fonseca ATQSM, Breinis P, Grindler CM, Andrade CEF, Mauro AMMF, Zanoteli E, Marques W, Maciel LMZ, Oliveira ASB, Morita MDPA, Yang E, Tavares VLR.   +22 more
europepmc   +1 more source

Efficacy of Liquid-chromatography and Radioimmunoassay in False-positives' Drop-off in CAH Newborn Screening.

J Clin Endocrinol Metab
Carvalho DF, Lima-Valassi HP, Hayashi GY, Oliveira ACM, Matias GSS, Alves ANL, Miranda MC, Funari M, Madureira G, Latrônico AC, Mendonca BB, Bachega TASS.   +11 more
europepmc   +1 more source