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Sjogren-Larsson Syndrome [PDF]

, 2020
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Do you know this syndrome? Sjogren-Larsson syndrome.

Anais brasileiros de dermatologia, 2011
We report a typical case of Sjogren-Larsson syndrome in a male patient, aged 20. The Sjogren-Larsson syndrome is a neurocutaneous, autosomal recessive and disabling condition, characterized by congenital ichthyosis, spastic paraplegia and mental retardation. It is caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase.
Marcela Duarte Villela, Benez, Elisa, Fontenelle, Brunela Bastos, Tozzi, Carolina, Presotto   +3 more
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The Importance of Minor Salivary Gland Biopsy in Sjogren Syndrome Diagnosis and the Clinicopathological Correlation

, 2016
Objective: Minor salivary gland biopsy is one of the objective tests used in the diagnosis of Sjogren syndrome. The aim of our study was to compare the clinical and laboratory data of primary and secondary Sjogren syndrome cases with a lymphocyte score 3
Serin, Gurdeniz, Akalin, Taner, Gürdeniz Serin, Gonca Karabulut, Gülşen Kandiloğlu, Karabulut, Gonca, Yasemin Kabasakal, Kabasakal, Yasemin, Kandiloglu, Gulsen, Taner Akalın   +9 more
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Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling. [PDF]

Ophthalmic Genet, 2020
Al-Holou SN, Siefker E, Fouzdar-Jain S, Suh DW, Rizzo WB.   +4 more
europepmc   +1 more source

Sjogren-Larsson syndrome: report of two cases.

Indian journal of dermatology, venereology and leprology, 2007
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 dots.
Monica Uppal, C. R. Srinivas, K. T. Thowfeeq   +2 more
openaire   +1 more source

QUADRIPARESIS IN SJOGREN SYNDROME

, 2015
Hypokalemic paralysis is a well recognised clinical presentation of Primary sjogren syndrome that occurs due to renal potassium loss caused by interstitial nephritis.
Nikhil Srivastva, Vijay Parashar, Praveen Chaturvedi, Nilesh Kumar   +3 more
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1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome. [PDF]

Mol Genet Metab, 2020
S'aulis D, Khoury EA, Zabel M, Rizzo WB.
europepmc   +1 more source

MR imaging and proton MR spectroscopic studies in Sjogren-Larsson syndrome: characterization of the leukoencephalopathy.

, 2004
Contains fulltext : 57410.pdf (Publisher’s version ) (Open Access)BACKGROUND AND PURPOSE: Sjogren-Larsson syndrome (SLS) is a neurocutaneous syndrome caused by a genetic enzyme deficiency in lipid metabolism.
Heerschap, A., Willemsen, M.A.A.P., Knaap, M.S. van der, Gabreëls, F.J.M., Graaf, M. van der, Domburg, P.H.M.F. van, Rotteveel, J.J.   +6 more
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Sjogren syndrome presenting with ganglionopathy

, 2007
Bilimsel Zemin: Sjögren sendromu, sekretuar bezlerde mononükleer hücre infiltrasyonu ile giden kronik inflamatuar, otoimmun bir egzokrinopatidir. Hastaların %10-40 da merkezi sinir sistemi ya da periferik sinir sistemi etkilenimi şeklinde nörolojik ...
Z. Çolakoğlu, F.E. Bayam, Korkut N. Bıçak   +2 more
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Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson Syndrome. [PDF]

Mol Syndromol
İcil S, Kılıç M, Sayar E, Sezer A.
europepmc   +1 more source