Results 51 to 60 of about 3,936 (170)

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
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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
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Sjögren–Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma

Journal of Lipid Research, 2000
Sjögren–Larsson syndrome (SLS) is an inherited disorder associated with deficient oxidation of long-chain aliphatic alcohols. Previous studies have reported modest elevations in total (free + esterified) fatty alcohols in SLS, but free fatty alcohols ...
William B. Rizzo, Debra A. Craft
doaj   +1 more source

Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature

Pediatric Dermatology, Volume 42, Issue 2, Page 305-310, March/April 2025.
ABSTRACT We describe a 1‐day old female with features of keratitis‐ichthyosis‐deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration.
Sarah Maarouf, Marie Clark, Anthony Chen, Anita Haggstrom   +3 more
wiley   +1 more source

Disorders of fatty acid homeostasis

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl‐CoA, although some FA are solely derived from exogenous sources (“essential FA”). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of
Frédéric M. Vaz, Sacha Ferdinandusse, Gajja S. Salomons, Ronald J. A. Wanders   +3 more
wiley   +1 more source

Practical diagnostic tips for the Sjogren Clinic: pearls, myths and mistakes

, 2022
20.500.12530/87893More than 90 years have passed since Hendrik Sjogren began to consider that behind the dryness that several of his patients presented, there could be a systemic disease potentially linked to abnormal immune responses.
Brito-Zeron, P., Flores-Chavez, A., Sjogren Syndrome Study Grp, Siso-Almirall, A., Ramos-Casals, M., Retamozo, S., Akasbi, M., GEAS-SEMI   +7 more
core   +1 more source