Results 31 to 40 of about 1,277,361 (159)

Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome. [PDF]

Congenit Anom (Kyoto)
Abstract Sjögren‐Larsson syndrome (SLS) is an autosomal recessive leukodystrophy characterized by ichthyosis, intellectual disability, and progressive spastic paralysis caused by biallelic pathogenic variants in the ALDH3A2 gene that encodes the fatty aldehyde dehydrogenase, fatty aldehyde dehydrogenase (FALDH); FALDH catalyzes several metabolic ...
Yamaguchi Y, Okuno H, Tokuoka S, Kita Y, Sanosaka T, Kohyama J, Kurosawa K, Sakai N, Miya F, Takahashi T, Kosaki K, Okano H.   +11 more
europepmc   +2 more sources

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 ...
C. R. Srinivas, K. T. Thowfeeq, Monica Uppal   +2 more
core   +3 more sources

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1. [PDF]

Int J Dev Neurosci
A de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Vaia Y, Mura E, Bruschi F, Zambrano S, Brena M, Tadini G, Arrigoni F, Antonello CE, Uggetti C, Parazzini C, Veggiotti P, Tonduti D.   +11 more
europepmc   +2 more sources

SJOGREN-LARSSON SYNDROME

The Professional Medical Journal, 2006
We present a case report of two brothers suffering from Sjogren-Larsson syndrome, who were bornto consanguineous parents. Sjogren-Larsson syndrome is one of the congenital icthyoses with an autosomal recessiveinheritance . It is characterized by the combination of 1 congenital ichthyosis with spastic diplegia, moderate mentalretardation and retinopathy.
FAWAD MUZAFFAR, MAJID SUHAIL
openaire   +2 more sources

Você conhece esta síndrome? Do you know this syndrome?

Anais Brasileiros de Dermatologia, 2010
Relatamos um caso típico, em um paciente masculino de 20 anos, da síndrome de Sjögren-Larsson, que é uma doença neurocutânea, autossômica recessiva e incapacitante, caracterizada por ictiose congênita, plegia espástica e retardo mental.
Marcela Duarte Villela Benez, Elisa Fontenelle, Brunela Bastos Tozzi, Carolina Presotto   +3 more
doaj   +1 more source

Sjögren–Larsson syndrome: A case that presented with alternating strabismus

Indian Journal of Ophthalmology. Case Reports, 2023
A girl was referred to our clinic for alternating esotropia. The angle of deviation was measured at +45 prism diopters (Δ). The esotropia gradually turned to exotropia over the last 9 years (about −15Δ). Fundoscopy revealed crystalline retinopathy and in
Christina Karakosta, Konstantinos Paraskevopoulos, Anastasios Bisoukis, Anna Vernikou, Anna Kokolaki   +4 more
doaj   +1 more source

Fatty aldehyde dehydrogenase, the enzyme downstream of tetrahydrobiopterin-dependent alkylglycerol monooxygenase

Pteridines, 2013
The tetrahydrobiopterin-dependent degradation of ether lipids by alkylglycerol monooxygenase (AGMO) produces fatty aldehydes, which are toxic to cells.
Keller Markus A., Watschinger Katrin, Golderer Georg, Werner-Felmayer Gabriele, Werner Ernst R.   +4 more
doaj   +1 more source

Primary Sjögren syndrome: report of a 10 years old girl with local edema and positivity of anti SS-A and anti SS-B autoantibodies

Reumatismo, 2011
Sjögren-Larsson syndrome (SLS) is an autoimmune disease, uncommon in childhood. We report a case of SLS in a 10-year-old girl with a history of tumor, calor and rubor in the back of her toes almost every month, which resolved in 4-5 days without therapy.
V. Gerloni, I. Pontikaki, M. Gattinara, C. Donati, E. Shahi   +4 more
doaj   +1 more source

Small touches to big walks –the impact of rehabilitation on Sjögren-Larsson syndrome: A case report

Journal of Pediatric Rehabilitation Medicine, 2022
Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disorder characterized by the presence of congenital ichthyosis, spasticity, and mental retardation. As with other rare genetic diseases, treatment is mainly symptomatic.
Gunay Yolcu, Leyla Huseynli, Ozge Kenis-Coskun, Evrim Karadag-Saygi   +3 more
doaj   +1 more source

Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal

Journal of Lipid Research, 2010
Fatty aldehyde dehydrogenase (EC 1.2.1.48) converts long-chain fatty aldehydes to the corresponding acids. Deficiency in this enzyme causes the Sjogren Larsson Syndrome, a rare inherited disorder characterized by ichthyosis, spasticity, and mental ...
Markus A. Keller, Katrin Watschinger, Georg Golderer, Manuel Maglione, Bettina Sarg, Herbert H. Lindner, Gabriele Werner-Felmayer, Alessandro Terrinoni, Ronald J.A. Wanders, Ernst R. Werner   +9 more
doaj   +1 more source