Results 171 to 180 of about 1,360,274 (268)

Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy. [PDF]

J Inherit Metab Dis
Gillingham MB, Choi D, Gregor A, Wongchaisuwat N, Black D, Scanga HL, Nischal KK, Sahel JA, Arnold G, Vockley J, Harding CO, Pennesi ME.   +11 more
europepmc   +1 more source

Nationwide Implementation of Newborn Screening for Spinal Muscular Atrophy in Canada. [PDF]

Neurol Genet
McMillan HJ, Osman H, Kernohan K, Lacaria M, Hume SL, Muranyi A, Sinclair G, Selby KA, Giguère Y, Antonishyn NA, Van Caeseele P, Evans C, Liu Z, Oskoui M.   +13 more
europepmc   +1 more source

Making Newborn Screening Work in Low- and Middle-Income Countries: From Global Commitment to Sustainable Action-The WHO Framework. [PDF]

Int J Neonatal Screen
Therrell BL, Padilla CD.
europepmc   +1 more source

19 Pancreatic sufficiency and insufficiency in cystic fibrosis newborn screening (CF NBS)

Journal of Cystic Fibrosis, 2012
Sands, D., Mielus, M., Zybert, K., Walicka, K., Piotrowski, R., Oitarzewski, M.   +5 more
openaire   +1 more source

Statewide Universal Newborn Screening for Human Immunodeficiency Virus. [PDF]

Int J Neonatal Screen
Tavakoli NP, Pearce M, Sejour R, Stansfield DM, Erickson M, McMahon R.   +5 more
europepmc   +1 more source

Strengthening Newborn Screening, Diagnosis and Management of Birth Defects in Low- and Middle-Income Countries: A Priority for WHO Member States. [PDF]

Int J Neonatal Screen
De Costa A, Duran P, Khanna R, Kayita J, Siddeeg K.   +4 more
europepmc   +1 more source

A Systematic Review of Metachromatic Leukodystrophy Newborn Screening: Transitioning from Pilot Studies to the Real World. [PDF]

Int J Neonatal Screen
Waser S, Kistler S, Adang LA, Orchard PJ, Datta AN, Sondheimer N, Köhler H, Drozdov D.   +7 more
europepmc   +1 more source

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BRIDGES-NBS. [PDF]

Genet Med
Gold NB, Johnson BA, Somanchi H, Minten T, Coury SA, Zawatsky CB, Begtrup A, Butler E, Langley KG, Zimmerman R, McLaughlin HM, Ellefson T, Kern A, Rehm HL, Bick D, Brenner SE, Kasperaviciute D, Abraham RS, Aksentijevich I, Babinski M, Billington CJ, Butte MJ, Canna SW, Caron M, Chan YM, Chandrakasan S, Chiang SCC, Delmonte OM, Diller LR, Downie L, Fleischer J, Fulton A, Ganetzky RD, Gold J, Goldbach-Mansky R, Grunebaum E, Hale RC, Hamosh A, Hildebrandt F, Holtz AM, Jacobsen C, Kan MJ, Kitcharoensakkul M, Kodyte V, Kreienkamp RJ, Lennerz BS, Lin AE, Madduri AV, Majzoub JA, Marsh RA, Miller DT, Milner JD, Mitchell DM, Murray B, Notarangelo LD, Peng XP, Place EM, Platt CD, Plon SE, Plotkin SR, Powell CM, Puck JM, Roberts AE, Sankaran VG, Schwartz DM, Seroogy CM, Srinath S, Strong A, Sullivan KE, Tan W, Tarrant TK, Thiagarajah JR, Walker MA, Wassner AJ, Bolanos HZ, BRIDGES-NBS team, Gaviglio AM, Bonhomme N, Ojodu J, Singh S, Zarbalian G, Pereira S, Goldenberg AJ, Holm IA, Wasserstein MP, Green RC.   +85 more
europepmc   +1 more source

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

Mol Genet Metab [PDF]

Newborn screening (NBS) is intended to identify congenital conditions prior to the onset of symptoms in order to provide early intervention that leads to improved outcomes.

core