Results 91 to 100 of about 1,277,361 (159)

Sjogren-Larsson syndrome: biochemical defects and follow up in three cases

, 2015
Sjogren-Larsson syndrome is a rare disorder that consists of congenital ichthyosis and neurological symptoms due to an enzymatic defect of fatty aldehyde dehydrogenase in the fatty alcohol cycle. We report three cases of Sjogren-Larsson syndrome in which
Taube, MBP, Auada, MP, Tanaka, AMU, Cintra, ML, Collares, EF   +4 more
core  

Impaired Skin Barrier Function Due to Reduced ω-O-Acylceramide Levels in a Mouse Model of Sjögren-Larsson Syndrome. [PDF]

Mol Cell Biol, 2021
Nojiri K, Fudetani S, Arai A, Kitamura T, Sassa T, Kihara A.   +5 more
europepmc   +1 more source

Sjögren-Larsson syndrome in Spain: Description of three new cases

Anales de Pediatría (English Edition), 2021
Cristina Villar-Vera, Ana Cuesta Peredo, Lucía Monfort-Belenguer, María Rosario Abellán Sanchez, Cecilia Martínez-Costa   +4 more
doaj   +1 more source

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
openaire   +1 more source

Sjogren-Larsson Syndrome [PDF]

, 2020
openaire   +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

Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome. [PDF]

J Inherit Metab Dis, 2020
Staps P, Rizzo WB, Vaz FM, Bugiani M, Giera M, Heijs B, van Kampen AHC, Pras-Raves ML, Breur M, Groen A, Ferdinandusse S, van der Graaf M, Van Goethem G, Lammens M, Wevers RA, Willemsen MAAP.   +15 more
europepmc   +1 more source

QUADRIPARESIS IN SJOGREN SYNDROME [PDF]

, 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
core  

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

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