Results 241 to 250 of about 84,505 (291)

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, EarlyView.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report

Journal of Clinical Periodontology, EarlyView.
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple, Sotiria Gizani, Mariano Sanz, Dominique Declerck, Phoebus Madianos, Valerie Clerehugh, Monique Danser, Esti Davidovich, Janet Davies, Nikos Donos, Elisabeth Dursun, Elena Figuero, Filippo Graziani, Mervi Gursoy, Soren Jepsen, Clara Joseph, Moritz Kebschull, Norbert Kraemer, Tina Lambrinaki, Rodrigo López, David J. Manton, Joerg Meyle, Ana Molina, Lior Shapira, Cheryl Somani, Georgios Tsilingaridis, Svante Twetman, Nicola West, Biniyam Wondimu, Ferranti Wong, David Herrera   +30 more
wiley   +1 more source

Dual Beneficial Effects of Topical l‐Glutamine on Oral Mucositis in 5‐Fluorouracil‐Treated Mice

Journal of Oral Pathology &Medicine, EarlyView.
ABSTRACT Background Oral mucositis is a severe health and economic problem that occurs in about 40%–90% of patients undergoing cancer treatments. Systemic or topical application of l‐glutamine has been shown to improve mucosal healing and ameliorate oral mucositis (OM) symptoms according to clinical score systems.
Juliana Francisca Grossi Heleno, Igor de Campos Fontes, Leticia Cristine Cardoso dos Santos, Victor Prokop Gonçalves Campos, Iury Berckmann Freitas Gomes, Derek William Gilroy, Silvia Passos Andrade, Paula Peixoto Campos   +7 more
wiley   +1 more source

Letter to the Editor: 'Rare but relevant: Genetic liver disease in the general medical setting'. [PDF]

Clin Med (Lond)
McCarron EP.
europepmc   +1 more source

Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway [version 1; referees: 2 approved, 2 approved with reservations] [PDF]

, 2016
et al,, Ory, Daniel S
core   +1 more source

Advances in Pharmacological Treatments for Cystinosis: Cysteamine and Its Alternatives. [PDF]

ACS Pharmacol Transl Sci
Carneiro A, Jones DH.
europepmc   +1 more source

Acute Airway Crisis in Mucopolysaccharidosis VI: Management Challenges. [PDF]

Diagnostics (Basel)
Tulebayeva A, Gadepalli C, Sharipova M.
europepmc   +1 more source

Cyclodextrins as Modulators of Regulated Cell Death: Implications for Immunometabolism and Therapeutic Innovation. [PDF]

Pharmaceutics
Trasca DM, Mocanu AG, Pluta ID, Popescu C, Stoica GA, Varut RM, Preoteasa D, Vintilescu ȘB, Stepan MD, Singer CE, Pirscoveanu DFV.   +10 more
europepmc   +1 more source

Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024.

Public Health Genomics
Furuta Y, Agrawal NS, Owen NN, Bastarache LA, Shyr C, Geiger HU, Jackson S, Lauderdale CJ, Carter CR, Morgan KA, Hamid R, Phillips Iii JA, Tinker RJ.   +12 more
europepmc   +1 more source