Results 161 to 170 of about 882,945 (335)

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Recent progress in the quantitative validation of JOREK simulations of ELMs in JET

, 2017
S. Pamela, Gta Guido Huijsmans, T. Eich, S. Saarelma, I. Lupelli, C. Maggi, C. Giroud, I. Chapman, S.F. Smith, L. Frassinetti, M. Becoulet, M. Hoelzl, F. Orain, S. Futatani   +13 more
semanticscholar   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

Photosynthetic Biomanufacturing in Mechanically Robust, 3D Printed Hydrogels. [PDF]

ACS Synth Biol
Taylor JE, Drake K, Tong N, Bezue JA, Nelson A, Atsumi S.   +5 more
europepmc   +1 more source

Expectations and Reality: The Lived Experiences of Australians With Psychosocial Disability Within the NDIS

Australian Journal of Social Issues, EarlyView.
ABSTRACT While Australia's National Disability Insurance Scheme (NDIS) was founded on principles of choice and control, for people with significant mental health challenges (what the NDIS calls ‘psychosocial disability’) these ideals often remain elusive. Support systems continue to be fractured and in the context of ongoing policy reforms, it is vital
Joel Hollier, Jennifer Smith‐Merry
wiley   +1 more source

A Doxorubicin‐Loaded Liposomes Baghdadite System for Localized Osteosarcoma Therapy and Bone Regeneration

Advanced NanoBiomed Research, EarlyView.
This study presents a multifunctional Baghdadite ceramic implant integrating doxorubicin‐loaded liposomes via ion‐assisted plasma polymer coating for localized osteosarcoma therapy. The platform enables drug retention, sustained release, tumor cell inhibition, osteoconductivity, and antibacterial activity, offering a mechanically robust strategy for ...
Sally Kortam, Zufu Lu, Iman Roohani, Ghazal Shineh, Leila Mamizadeh Janghour, Huu Nguyen Ngoc, Pooria Lesani, Behnam Akhavan, Hala Zreiqat   +8 more
wiley   +1 more source

Gradients of Aliveness and Engineering: A Taxonomy of Fungal Engineered Living Materials. [PDF]

Adv Mater
Elsacker E, Saluena Martin J, Sangosanya AO, Verstuyft A, Van Wylick A, Peeters E.   +5 more
europepmc   +1 more source

Investigation of transient melting of tungsten by ELMs in ASDEX Upgrade

, 2017
K. Krieger, B. Sieglin, M. Balden, J. Coenen, B. Göths, F. Laggner, P. Marné, G. Matthews, D. Nille, V. Rohde, R. Dejarnac, M. Faitsch, L. Giannone, A. Herrmann, J. Horáček, M. Komm, R. Pitts, S. Ratynskaia, E. Thorén, P. Tolias, ASDEX-Upgrade team, E. Team   +21 more
semanticscholar   +1 more source

Case Report: The leiomyoma-leiomyosarcoma sequence exists in the esophagus: first case of malignant transformation treated with endoscopic submucosal dissection. [PDF]

Front Med (Lausanne)
Wang X, Gui G, Liu R, Yang Z, Xu G, Sun B.   +5 more
europepmc   +1 more source