Results 161 to 170 of about 367,343 (310)

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease? [PDF]

JIMD Rep
Fiori L, Turzi M, Tagi VM, Asnaghi L, Bonaventura E, Tonduti D, Spaccini L, Saielli LA, Montanari C, Cairello F, Mannarino S, Ferrario M, Del Longo A, Napolitano M, Righini A, Semeraro M, Venerando A, Miceli M, Verduci E, Zuccotti G.   +19 more
europepmc   +1 more source

Prognostic value of serum alkaline phosphatase in the survival of prostate cancer: evidence from a meta-analysis

, 2018
Dongyang Li,1,* Hang Lv,2,* Xuanyu Hao,3 Bin Hu,2 Yongsheng Song1 1Department of Urology, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, P.R.
Li D, Lv H, Hao X, Hu B, Song Y
core  

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Persistently Low Alkaline Phosphatase in Fibromyalgia: Hypophosphatasia or Confounding Clinical Context? [PDF]

Med Princ Pract
Harman H.
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Association between body mass index and rheumatoid arthritis: Exploring a possible role for alkaline phosphatase. [PDF]

Medicine (Baltimore)
Wei W, Xu J.
europepmc   +1 more source

Natural Aging of Biomaterials in Ambient and Physiological Environments

Advanced NanoBiomed Research, EarlyView.
Biomaterials used in biomedical applications can change their physical properties over time, even under ambient and physiological conditions. This review highlights key studies on the natural aging of materials ranging from soft hydrogels to metals and ceramics, emphasizing how time‐dependent changes influence function and performance.
Shuyu Zhang, Anne E. Staples
wiley   +1 more source

Tissue nonspecific and intestinal alkaline phosphatase crosstalk: a missing link in hypophosphatasia pathophysiology? [PDF]

J Transl Med
Martínez-Heredia L, González-Cejudo T, Andreo-López MC, Contreras-Bolívar V, García-Fontana C, García-Fontana B, Muñoz-Torres M.   +6 more
europepmc   +1 more source

Injectable Bone Cements: A Generational Framework for Bioactivity, Porosity, and Mechanobiological Design at the Nanoscale

Advanced NanoBiomed Research, EarlyView.
Key demographic, biological, and material considerations that drive the need for advanced injectable bone cement technologies. Injectable bone cements (IBCs) are widely used in orthopaedic and craniofacial applications due to their minimally invasive delivery and ability to provide early mechanical stabilisation.
Frank Fei, Yogambha Ramaswamy, Young Jung No   +2 more
wiley   +1 more source

Commentary on "Prognostic significance of the albumin to alkaline phosphatase ratio - a meta-analysis". [PDF]

Int J Surg
Zhao S, Yua B.
europepmc   +1 more source