Results 51 to 60 of about 634 (113)

A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING. [PDF]

Rev Paul Pediatr, 2019
Borges MF, Domené HM, Scaglia PA, Lara BHJ, Palhares HMDC, Santos AVA, Gonçalves ALF, Oliveira MM, Marqui ABT.   +8 more
europepmc   +1 more source

Why should a 5q spinal muscular atrophy neonatal screening program be started? [PDF]

Arq Neuropsiquiatr
Becker MM, Nardes F, Dangouloff T, Servais L, Araujo APQC, Gurgel-Giannetti J.   +5 more
europepmc   +1 more source

NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCIES USING TRECS AND KRECS: SECOND PILOT STUDY IN BRAZIL. [PDF]

Rev Paul Pediatr, 2017
Kanegae MPP, Barreiros LA, Sousa JL, Brito MAS, Oliveira EB, Soares LP, Mazzucchelli JTL, Fernandes DQ, Hadachi SM, Holanda SM, Guimarães FATM, Boacnin MAPVV, Pereira MAL, Bueno JMC, Grumach AS, Gesu RSWD, Santos AMND, Bellesi N, Costa-Carvalho BT, Condino-Neto A.   +19 more
europepmc   +1 more source

Follow-up of children diagnosed with deafness in a neonatal hearing screening program in Manaus. [PDF]

Rev Saude Publica, 2023
Botelho JBL, Carvalho DM, Santos-Melo GZD, Cardoso Neto J, Nascimento SMD, Figueiredo WLD, Lacerda LA, Nogueira KH.   +7 more
europepmc   +1 more source

False-negative newborn screening result for immunoreactive trypsinogen: a major problem in children with chronic lung disease. [PDF]

J Bras Pneumol, 2019
Lumertz MS, Rispoli T, Rosa KMD, Pinto LA.   +3 more
europepmc   +1 more source

Maternal and child predictors associated with loss to follow-up in the newborn hearing screening program: a cohort study in maternity hospitals in northeastern Brazil. [PDF]

Codas, 2023
Lucena MHMSL, Cavalcanti HG.
europepmc   +1 more source

IRT/IRT as a newborn cystic fibrosis screening method: optimal cutoff points for a mixed population. [PDF]

Cad Saude Publica
Godoy C, Brito PP, Amorim T, Souza EL, Boa-Sorte N.   +4 more
europepmc   +1 more source

Epidemiological profile of congenital hypothyroidism at a southern Brazilian state. [PDF]

Arch Endocrinol Metab, 2023
Boff MI, Kopacek C, de Souza VC, Ribeiro SC, Kreisner E, Vargas PR, Mastella LS, Madi JM, de Castro SM, Rahmi RM.   +9 more
europepmc   +1 more source

Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil. [PDF]

Genet Mol Biol
Oliveira Netto AB, Hentschke-Lopes M, Pasetto FB, Anjos TARD, Andrade GS, Sousa MIA, Moraes IDS, Trapp FB, Brusius-Facchin AC, Saute JAM, Becker MM, Coutinho VLS, Vilella-Arias S, Ponci V, França Junior MC, Galera MF, Amorim T, Giugliani R.   +17 more
europepmc   +1 more source

Estimation of care costs for individuals with cystic fibrosis at a referral center: cohort study, Salvador, 2005-2022. [PDF]

Epidemiol Serv Saude
Costa JCB, Sorte NCAB, D'Souza EL.
europepmc   +1 more source