Results 281 to 290 of about 3,396,540 (313)

Cost-Effectiveness of Newborn Screening for Infantile-Onset Pompe Disease in Japan. [PDF]

Int J Neonatal Screen
Konomura K, Tanaka M, Tajima G, Hoshino E.   +3 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Expanded Newborn Screening Metabolites as Potential Biomarkers of Extrauterine Growth Restriction in Very-Low-Birth-Weight Preterm Infants. [PDF]

Nutrients
Scaglione M, Calevo MG, Pessano S, Perri FN, Mariani S, Massirio P, Cassanello M, Perrone Donnorso M, Sondo E, Malova M, Schiaffino MC, Maghnie M, Ramenghi LA.   +12 more
europepmc   +1 more source

Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report. [PDF]

J Hum Immun
Winestone LE, Logan BR, Liu X, Williams O, Dunn EA, Thakar MS, Kidd SA, Mousallem T, Dorsey MJ, O'Reilly RJ, Kapoor N, Forbes Satter L, Kapadia M, Jyonouchi SC, Chandra S, Ebens CL, Chellapandian D, Chaudhury S, Chen K, Dávila Saldaña BJ, Rayes A, Quigg TC, Chandrakasan S, Bednarski JJ, DeSantes KB, Teira P, Gillio AP, Eissa H, Knutsen AP, Aquino VM, Shereck EB, Moore TB, Caywood EH, Vander Lugt MT, Rozmus J, Broglie L, Yu LC, Shah AJ, Joshi AY, Buckley RH, Dara J, Oved JH, Abdel Azim H, Martinez CA, Prockop S, Sullivan KE, Bleesing JJ, Keller MD, Madden LM, Parikh S, Shenoy S, Seroogy CM, Rubin T, Licata J, Andolina JR, Kohn DB, Burroughs L, Leiding JW, Marsh RA, Notarangelo LD, Pai SY, Torgerson TR, Pulsipher MA, Heimall J, Cuvelier GDE, Griffith LM, Puck JM, Dvorak CC, Cowan MJ, Haddad E.   +69 more
europepmc   +1 more source

NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study. [PDF]

BMJ Open
Anastasi L, Chowdhury A, Ashenden A, Rozek T, Louise J, Lam K, Skinner S, Stallard K, Merlin T, Schubert C, Vogan A, Morris S, Cohen-Woods S, Smith N, Ranieri E, Saxon B, Scott HS, Bratkovic D, Barnett CP, Siu CW, King J, Kassahn KS.   +21 more
europepmc   +1 more source

Advancements and insights into newborn screening with tandem mass spectrometry in China: a comprehensive descriptive analysis (2017-2021). [PDF]

BMJ Paediatr Open
Yang X, Zhao Q, Pan R, Wu X, Xu Y, Lin Z, Huang X, Huang X, Yang R, Ma D, Zhao Z.   +10 more
europepmc   +1 more source

The relationship between mothers' health literacy and their knowledge and attitudes towards newborn screening. [PDF]

J Community Genet
Sert S, Unsal A, Arslantas D, Arslangiray O, Dinleyici M.   +4 more
europepmc   +1 more source

Integrated Newborn Screening in Nigeria: The Way Forward, A Workshop Report. [PDF]

Int J Neonatal Screen
Folayan OS, Orimadegun BE, Ayede AI, Inusa BP, Kase MK, Anetor JI.   +5 more
europepmc   +1 more source

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Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study.

The Lancet Child & Adolescent Health, 2023
BACKGROUND In light of a new therapeutic era for spinal muscular atrophy (SMA), newborn screening has been proposed as a gateway to facilitate expedient diagnosis and access to therapeutics.
D. Kariyawasam, Arlene M. D'Silva, H. Sampaio, Nancy Briggs, K. Herbert, V. Wiley, M. Farrar   +6 more
semanticscholar   +1 more source