Results 51 to 60 of about 2,293 (174)

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
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Multilocus Genetic Variants in a Child With Neuro‐Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3–q32.11 Deletion

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neuro‐ichthyosis is a rare group of disorders characterized by the coexistence of neurological dysfunction and ichthyotic skin changes. We report a 5‐year‐old girl born to consanguineous parents who presented with pharmacoresistant epilepsy, severe developmental delay, microcephaly, and ichthyosis.
Bessan Hamed Dababseh, Ala'a S. Ghnimat, Lubna W. AbuHamdiya, Mones H. Atatre, Ahmad Batran, Mahdi W. Suboh   +5 more
wiley   +1 more source

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 Development of a Direct Homologous Radioimmunoassay for Serum Cortisol [PDF]

, 1981
Peer ...
Giesemann, G., Müller, O. A., Scriba, Peter Christian, Stalla, G., Wood, W. G.   +4 more
core   +2 more sources

l-α-Lysophosphatidylinositol (LPI) aggravates myocardial ischemia/reperfusion injury via a GPR55/ROCK-dependent pathway [PDF]

, 2019
The phospholipid l-α-lysophosphatidylinositol (LPI), an endogenous ligand for GPR55, is elevated in patients with acute coronary syndrome, and a GPR55 antagonist cannabidiol (CBD) reduces experimental ischemia/reperfusion (I/R) injury.
Jönsson-Rylander, Ann Cathrine, Lipina, Christopher, Robertson-Gray, Olivia J., Ryberg, Erik, Wainwright, Cherry L., Walsh, Sarah K.   +5 more
core   +3 more sources

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

Дентальні маркери дерматологічних захворювань [PDF]

, 2010
Кожные болезни могут быть связаны с широким разнообразием стоматологических проявлений, которые должны быть знакомы и дерматологам, и стоматологам. Стоматологические проявления связаны с широким спектром заболеваний кожи, которые включают генетические ...
Галникіна, С.О., Стасюк, М.Б.   +1 more
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White Matter Diseases YES, Multiple Sclerosis NO, Sjogren - Larsson Syndrome: Another Differential Diagnosis of Multiple Sclerosis

Caspian Journal of Neurological Sciences, 2015
Sjogren-Larsson Syndrome (SLS) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation.
Karim Nikkhah, Ali Ghabeli-Juibary, Shadi Zamanian   +2 more
doaj  

Sjogren-Larsson syndrome: Report of two cases [PDF]

, 2004
Two cases of Sjogren-Larsson syndrome are discussed along with a review of the literature. Both the patients had generalized ichthyosis, spastic paraplegia, mental retardation and ophthalmologic examination showing glistening foveal and parafoveal ...
Uppal Monica , Srinivas CR, Thowfeeq KT
core  

Plenary Lecture 2: Milk and dairy produce and CVD: new perspectives on dairy and cardiovascular health [PDF]

, 2016
Cardiovascular diseases (CVD) are the leading cause of mortality and morbidity worldwide. One of the key dietary recommendations for CVD prevention is reduction of saturated fat intake.
de Souza, Ditte A. Hobbs, Givens, Jebb, Julie A. Lovegrove, Kleber, Qin   +6 more
core   +1 more source