Results 271 to 280 of about 288,749 (359)

History of Neonatal Screening of Congenital Hypothyroidism in Portugal. [PDF]

Int J Neonatal Screen
Costeira MJ, Costa P, Roque S, Carvalho I, Vilarinho L, Palha JA.   +5 more
europepmc   +1 more source

Advancing Neonatal Jaundice Screening with Mhealth: A Mixed-Methods Randomized Controlled Feasibility Study in a Resource-Limited Setting in Mexico

Gabriela Jiménez-Díaz, Jesús Elizarrarás-Rivas, Martina Keitsch, Lobke Gierman, Anna Marcuzzi, Jennifer J. Infanti   +5 more
openalex   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

Protocol for a Multicentric Cohort Study on Neonatal Screening and Early Interventions for Sickle Cell Disease Among High-Prevalence States of India. [PDF]

Diagnostics (Basel)
Surve S, Thakor M, Madkaikar M, Kaur H, Desai S, Shanmugam R, Mohanty SS, Pandey A, Salomi Kerketta A, Dave K, Gawit KG, Bharathi Ramasamy L, Warerkar O, Kedar P, Kulkarni R, Nair S, Rajamani N, Nadkarni A.   +17 more
europepmc   +1 more source

Paper-based enzymatic platform coupled to screen printed graphene-modified electrode for the fast neonatal screening of phenylketonuria

, 2018
Cristian M. Moreira, Sirley V. Pereira, Julio Raba, Franco A. Bertolino, Germán A. Messina   +4 more
openalex   +2 more sources

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

[Development of a quality control indicator system for neonatal screening of inherited metabolic diseases in obstetric settings]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Li H, Zhang J, Cao DF.
europepmc   +1 more source

Biochemical and Immunohistochemical Associations of TDP‐43 and Cryptic RNA With Hippocampal and Amygdala Volumetrics in Alzheimer's Disease

Annals of Neurology, EarlyView.
Objective Immunohistochemically (IHC) measured transactive response DNA‐binding protein 43 (TDP‐43) inclusions are observed in Alzheimer's disease (AD) and are associated with medial temporal lobe atrophy. Accumulation of cryptic exons occurs in AD in response to TDP‐43 pathology.
Hossam Youssef, Rodolfo G. Gatto, Nikhil B. Ghayal, Virginia Estades Ayuso, Karen R. Jansen‐West, Judith A. Dunmore, Yuping Song, Mei Yue, Casey N. Cook, Michael DeTure, Bailey D. Rawlinson, Monica Castanedes‐Casey, Clifford R. Jack Jr, Ronald C. Petersen, Dennis W. Dickson, Leonard Petrucelli, Jennifer L. Whitwell, Mercedes Prudencio, Keith A. Josephs   +18 more
wiley   +1 more source

The significance of machine learning in neonatal screening for inherited metabolic diseases. [PDF]

Front Pediatr
Yang X, Ding S, Zhang J, Hu Z, Zhuang D, Wang F, Wu S, Chen C, Li H.   +8 more
europepmc   +1 more source

Ontogenetic changes and sexual dimorphism in the cranium and mandible of the Atlantic walrus (Odobenus rosmarus rosmarus L.)

The Anatomical Record, EarlyView.
Abstract Walruses have been an important subsistence and cultural resource for humans and have been exploited for millennia across their distribution. This exploitation has contributed to severe declines in several populations and local extirpations.
Katrien Dierickx, Oliver Kersten, Youri van den Hurk, Brenna A. Frasier, Richard Sabin, Bastiaan Star, James H. Barrett   +6 more
wiley   +1 more source