Results 51 to 60 of about 1,180,431 (171)

Sjogren Larsson Syndrome in Twins: Case Report

Journal of Skin and Stem Cell, 2023
Introduction: Sjogren-Larsson syndrome is a rare autosomal neurocutaneous disease, dermatologically manifested by congenital ichthyosis, associated with para/tetraplegia and developmental delay. Case Presentation: We present the case of two triplet patients, a girl, and a boy, 3 months old, admitted to the intensive care unit (ICU) due to respiratory ...
Gabriela Roncada Haddad, Mariana Righetto de Re Lai, Mariana Lopes Amaral Barbosa, Andre Luis Moura Balbino   +3 more
openaire   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Ion channels

British Journal of Pharmacology, Volume 182, Issue S1, Page S152-S241, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Jörg Striessnig, Alasdair J. Gibb, Alistair A. Mathie, Emma L. Veale, Eamonn Kelly, Chloe J. Peach, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Richard W. Aldrich, Bernard Attali, Austin M. Baggetta, Elvir Becirovic, David J. Beech, Martin Biel, Roslyn M. Bill, Ana I. Caceres, William A. Catterall, Han Chow Chua, Alex C. Conner, Henry Danahay, Paul Davies, Katrien De Clerq, Markus Delling, Francesco Di Virgilio, Simonetta Falzoni, Wei Fang, Stefanie Fenske, Anna Fortuny‐Gomez, Samuel Fountain, George K. Chandy, Mohammad‐Reza Ghovanloo, Steve A. N. Goldstein, Martin Gosling, Christian Grimm, Stephan Grissmer, Kotdaji Ha, Tim G. Hales, Verena Hammelmann, Israel Hanukoglu, Meiqin Hu, Ad P. Ijzerman, Sairam V. Jabba, Mike Jarvis, Anders A. Jensen, Sven E. Jordt, Leonard K. Kaczmarek, Stephan Kellenberger, Charles Kennedy, Brian King, Philip Kitchen, Qiang Liu, Joseph W. Lynch, Rian W. Manville, Jessica Meades, Verena Mehlfeld, Annette Nicke, Stefan Offermanns, Edward Pérez‐Reyes, Leigh D. Plant, Stephan A. Pless, Lachlan D. Rash, Dejian Ren, Hussein N. Rubaiy, Mootaz M. Salman, Werner Sieghart, Lucia G. Sivilotti, Trevor G. Smart, Terrance P. Snutch, Paolo Tammaro, Jinbin Tian, James S. Trimmer, Charlotte Van den Eynde, Paola Vergani, Joris Vriens, Stephen G. Waxman, Aguan D. Wei, Brenda T. Winn, Heike Wulff, Haoxing Xu, Fan Yang, Lixia Yue, Xiaoli Zhang, Michael Zhu   +86 more
wiley   +1 more source

Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation

The Turkish Journal of Pediatrics, 2012
Sjögren-Larsson syndrome is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, a microsomal enzyme that catalyzes the oxidation of medium- and long-chain aliphatic aldehydes ...
Uluç Yiş, Allesandro Terrinoni
doaj  

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome. [PDF]

J Hum Genet, 2007
Sjogren-Larsson syndrome (SLS; MIM#270200) is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase (FALDH), a microsomal enzyme that catalyzes the oxidation of medium- and long-chain ...
Didona B, Codispoti A, Bertini E, Rizzo WB, Carney G, Zambruno G, Dionisi-Vici C, Paradisi M, Pedicelli C, Melino G, Terrinoni A.   +10 more
europepmc   +2 more sources

Síndrome Pellizaeus-Merzbacher, Sjogren-Larsson [PDF]

, 1993
Se presenta un extraño caso de Síndrome de Pellizaeus Merzbacher, asociado a un Síndrome de Sjogren-Larsson en una niña ciega puertorriqueña de 16 años con retraso mental y parálisis espástica. La asociación entre ambos síndromes es genética, debido a la
Corpas Pastor, Luis, Machuca Portillo, María del Carmen   +1 more
core  

Proton magnetic resonance spectroscopy findings and clinical effects of montelukast sodium in a case with Sjogren-Larsson syndrome

, 2006
Sjogren-Larsson syndrome is a rare hereditary metabolic disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia.
Aydin, Kursad, Pirgon, Ozgur, Atabek, M. Emre   +2 more
core   +1 more source

Oral Manifestations in the Post COVID‐19 Condition: A Systematic Review With Meta‐Analysis

Reviews in Medical Virology, Volume 35, Issue 4, July 2025.
ABSTRACT Post‐COVID‐19 condition, or Long COVID, is characterised by symptoms persisting or emerging beyond 12 weeks after acute infection. Among over 200 reported symptoms, oral manifestations such as taste loss and dry mouth have been identified. This systematic review reports the frequency and characteristics of these symptoms.
Letícia Simeoni Avais, Elis Carolina Pacheco, Luisa Pereira de Oliveira Zanetti Gomes, Márcia Helena Baldani, Camila Marinelli Martins, Eliseu Alves Waldman, Jean Paul J. Gonzalez, Tomoko Y. Steen, Pollyanna Kássia de Oliveira Borges   +8 more
wiley   +1 more source

Novel Missense ALDH3A2 Mutation in a Patient with Sjogren-Larsson Syndrome

, 2020
An 11-year-old boy presented with toe-walking, hyperkeratosis of the skin, dysarthric speech, and mild mental retardation. On neurological examination, mild fasciculation in the eyelids and bilateral end-point nystagmus were noted.
KONUŞKAN, BAHADIR, Cavdarli, Busranur, Topaloglu, Haluk, Tagiyev, Anar   +3 more
core   +1 more source

Neuroichthyosis With a De Novo Variant c.494C>T in ELOVL1 and Severe Pruritus Relieved by Dupilumab

Pediatric Dermatology, Volume 42, Issue 4, Page 844-848, July/August 2025.
ABSTRACT We report a patient with neuroichthyosis with an ELOVL1 variant associated with severe pruritus who responded well to dupilumab therapy. Our case is the third known patient reported with this de novo heterozygous dominant variant. The feature of severe progressive pruritus greatly impairing quality of life is unique among these reports.
Danielle Marcoux, Sophie‐Anne Savard, Victor Kokta, Elsa Rossignol, Luis H. Ospina   +4 more
wiley   +1 more source

Speech-language performance in Sjogren-Larsson syndrome.

, 2009
Item does not contain fulltextOBJECTIVE: To describe speech-language pathology in patients with Sjogren-Larsson syndrome (SLS) in relation to their cognitive and motor impairment. DESIGN: Observational case series.
Willemsen, M.A.A.P., Willemsen, M., Fuijkschot, J., Gerven, M.H.J.C van, Gorter, J.W., Maassen, B., Maassen, B.A.M., Van Gerven, M.   +7 more
core   +1 more source