Results 201 to 210 of about 280,708 (291)

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails. [PDF]

Ital J Pediatr
Gragnaniello V, Puma A, Gueraldi D, D'Errico I, Cazzorla C, Loro C, Porcù E, Salviati L, Burlina AB.   +8 more
europepmc   +1 more source

Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. [PDF]

Int J Neonatal Screen
Kuypers AM, Bouva MJ, Loeber JG, Boelen A, Dekkers E, Petritis K, Pickens CA, The Isns Representatives, van Spronsen FJ, Heiner-Fokkema MR.   +9 more
europepmc   +1 more source

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +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

Protein‐Template Gold Nanoclusters Induce Differentiation and Modify the Functional Properties of Primary Astrocytes

Advanced NanoBiomed Research, EarlyView.
The incubation of primary astrocytes with fAuNCs‐BSA induces: (A) long‐term effects including fAuNCs‐BSA internalization, red cell fluorescence, differentiation, upregulation of Ca2+ signaling, Cl‐current, and cell volume regulation. B) Short‐term (200 ms) stimulation with UV LED light increases in Ca2+ signaling and inhibition of K+ current. Astrocyte
Roberta Fabbri, Karima Jeneh Perry, Emanuela Saracino, Chiara Lazzarini, Anna Mariano, Diletta Spennato, Maria Grazia Mola, Maria Grazia Raucci, Alessandro Kovtun, Marianna Barbalinardo, Giorgia Conte, Denis Gentili, Marco Caprini, Vincenzo Palermo, Roberto Zamboni, Luigi Ambrosio, Wolfgang Losert, Andrea Candini, Grazia Paola Nicchia, Raj K. Gupta, Valentina Benfenati, Shashi P. Karna   +21 more
wiley   +1 more source

Decoding the Pathophysiology of Autoimmune Diseases—Mechanism, Triggers, and Nanotherapeutics: A Review

Advanced NanoBiomed Research, EarlyView.
This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari, Yunhui Min, Eun‐Ju Ko, Doyoung Kwon, Rehan Khan, Young‐Ok Son   +5 more
wiley   +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

Rare Variants of the SMN1 Gene Detected during Neonatal Screening. [PDF]

Genes (Basel)
Akhkiamova M, Polyakov A, Marakhonov A, Voronin S, Saifullina E, Vafina Z, Michalchuk K, Braslavskaya S, Chukhrova A, Ryadninskaya N, Kutsev S, Shchagina O.   +11 more
europepmc   +1 more source

Ontogeny of murine bony semicircular canal form

The Anatomical Record, EarlyView.
Abstract The labyrinthine geometry and functional anatomy of the semicircular canals have intrigued scientists for decades, and there has been considerable interest in understanding how these complex structures grow and develop with evidence emerging from human studies that size maturation occurs exceptionally early by comparison with other systems ...
Marcela Cárdenas‐Serna, Nathan Jeffery   +1 more
wiley   +1 more source

Dietary pattern and nutritional assessment in a cohort of mothers identified by neonatal screening for cobalamin deficiency in offspring: an Italian single center experience. [PDF]

Front Nutr
Tosi M, Tagi VM, Colombo A, Cecchini A, Zobele M, Montanari C, Ferraro S, Bosetti A, Bonaventura E, Bruschi F, De Zan D, Fiore G, Cereda C, Zuccotti G, Verduci E.   +14 more
europepmc   +1 more source