Results 221 to 230 of about 225,004 (293)

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment

Teresa Hoi-Yee Wu, Heather A. Brown, Heather J. Church, Christopher J. Kershaw, Rebekah Hutton, Christine Egerton, James A. Cooper, Karen Tylee, Rebecca N. Cohen, David Gokhale, Dipak Ram, Georgina Morton, Michael W. Henderson, Brian Bigger, Simon Jones   +14 more
openalex   +1 more source

A method to assess the organizing behaviors used in physicians’ counseling of standardized parents after newborn genetic screening

, 2013
Stephanie Christopher, Nadia Ahmad, Lisa Bradford, Jenelle L. Collins, Kerry L. Eskra, Alison La Pean Kirschner, Faith O. O’Tool, Sara J. Roedl, Michael H. Farrell   +8 more
openalex   +2 more sources

Mitochondrial Adaptation to Mechanical Stress in Cardiac Ageing and Disease

Advanced Science, EarlyView.
Mechanical forces shape the heart's energy factories. This review explores how mitochondria in cardiac cells sense and respond to biomechanical stress, altering their structure, positioning, and metabolism. By linking mechanical cues to mitochondrial adaptation, the article highlights pathways driving heart disease and points to new strategies for ...
Aishwarya Prakash, Thomas Iskratsch
wiley   +1 more source

Is It Time to Expand Newborn Screening for Congenital Hypothyroidism to Other Rare Thyroid Diseases? [PDF]

Int J Neonatal Screen
Olivieri A, Vigone MC, Salerno M, Persani L.   +3 more
europepmc   +1 more source

Storage, Use and Access to the Scottish Guthrie Card Collection:Ethical, Legal, and Social Issues [PDF]

, 2014
Cunningham-Burley, Sarah, Hunter, Kathryn, Laurie, Graeme   +2 more
core  

Newborn screening: the genomic challenge [PDF]

, 2014
Levy, Harvey L
core   +1 more source

A Public Health Perspective on the Importance of Plasma Phenylalanine and Tyrosine Determination in Relation to Newborn Screening and Monitoring of Treatment in Phenylketonuria

, 2016
Valerica Belengeanu
openalex   +2 more sources

Cidea Targeting Protects Cochlear Hair Cells and Hearing Function From Drug‐ and Noise‐Induced Damage

Advanced Science, EarlyView.
Acquired sensorineural hearing loss is primarily caused by the damage or loss of cochlear hair cells, induced by factors such as noise exposure and ototoxic drugs. The deficiency of apoptosis‐inducing gene Cidea in Cidea KO mice or by delivering CRISPR/SlugCas9‐HF via AAV to edit Cidea effectively alleviated hair cell damage and hearing loss caused by ...
Shasha Zhang, Ruiying Qiang, Yuan Zhang, Jinxian Wan, Chen Tao, Ying Dong, Xujun Tang, Li Xu, Hairong Xiao, Yanqin Lin, Wei Tong, Ying Ma, Yongming Wang, Peng Li, Renjie Chai   +14 more
wiley   +1 more source

Systematic point-of-care newborn screening for sickle cell disease in rural Mali, West Africa. [PDF]

Br J Haematol
Guindo A, Cablay K, Kamate J, MacLean B, Saye D, Dembele P, Anderson AR.   +6 more
europepmc   +1 more source

Cost-Effectiveness of Routine Screening for Critical Congenital Heart Disease in US Newborns

, 2013
Cora Peterson, Scott D. Grosse, Matthew E. Oster, Richard S. Olney, Cynthia H. Cassell   +4 more
openalex   +2 more sources