Results 21 to 30 of about 2,293 (174)

Anesthetic Considerations for Sjogren-Larsson Syndrome [PDF]

Graduate Medical Education Research Journal, 2020
Miravite, Maireen, LeRiger, Michelle, Franzen, Marcellene, Pellegrino, Kaitlyn   +3 more
openaire   +5 more sources

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: A Rare Case Report.

Indian Dermatol Online J, 2018
Shah V, Rambhia K, Mukhi J, Singh RP.
europepmc   +3 more sources

An interesting case of neurocutaneous syndrome [PDF]

, 2023
Neuroichthyosis is a group of rare genetically determined disease with cutaneous and neurological manifestations due to abnormalities in any of the following: lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. There are about
Kedlaya, Shraddha K., Palanisamy, Lenin Sankar, Ramachandran, M., Veeramani, Ravikumar   +3 more
core   +2 more sources

FITM2-Related Siddiqi Syndrome in Two Iranian Siblings. [PDF]

Clin Case Rep
ABSTRACT We report the first two Iranian siblings with Siddiqi syndrome, carrying a novel likely pathogenic FITM2 variant. Both presented with hallmark features, including early‐onset sensorineural hearing loss, severe generalized dystonia, growth failure, and ichthyosis of the lower limbs, expanding the geographic and genetic spectrum of this rare ...
Ahmadi R, Bavarsad MJ, Feizollah Jani M, Azizimalamiri R.   +3 more
europepmc   +2 more sources

Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids [PDF]

, 2008
Very-long-chain fatty acids (VLCFAs) have long been known to be degraded exclusively in peroxisomes via beta-oxidation. A defect in peroxisomal beta-oxidation results in elevated levels of VLCFAs and is associated with the most frequent inherited ...
Dacremont, Georges, Kemp, Stephan, Ofman, Rob, Sanders, Robert-Jan, Wanders, Ronald J. A.   +4 more
core   +2 more sources

Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

Molecular Genetics &Genomic Medicine, Volume 11, Issue 12, December 2023., 2023
ELOVL4‐related ichthyosis, spastic quadriplegia and mental retardation (ISQMR) is a rare autosomal recessive disorders characterized by ichthyosis with neurological features. Only five families with ISQMR with biallelic single‐nucleotide variants have been described date and no families with copy number variants (CNVs) have been described.
Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi   +18 more
wiley   +1 more source

Sjögren–Larsson Syndrome: A Case Report of a Rare Neuro-cutaneous Disorder

Nepalese Medical Journal, 2019
Sjögren–Larsson syndrome is a rare autosomal recessive neuro-cutaneous disease. The dominant features are congenital ichthyotic hyperkeratosis, spastic diplegia and mild to moderate mental retardation.
Manish Pradhan, Arun Giri, Dipa Rai, Rajeev Yadav   +3 more
doaj   +1 more source

Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells [PDF]

, 2013
Mutations in Wiskott-Aldrich syndrome (WAS) protein (WASp), a regulator of actin dynamics in hematopoietic cells, cause WAS, an X-linked primary immunodeficiency characterized by recurrent infections and a marked predisposition to develop autoimmune ...
Agrawal, Alessandro Aiuti, Altfeld, Andreansky, Anna Villa, Astrakhan, Ayse Metin, Badour, Baechler, Baechler, Barrat, Becker-Herman, Björck, Blanco, Blomberg, Bosticardo, Bosticardo, Bouma, Båve, Båve, Cancro, Cao, Caterina Cancrini, de Noronha, Derivery, Ding, Duan, Dupré, Dupuis-Girod, Elisa Bonomi, Emamian, Escoll, Federica Benvenuti, Fleck, Francesca Prete, Gallego, Garcia-Romo, Gilliet, Gilliet, Gismondi, Gottenberg, Guiducci, Honda, Humblet-Baron, Humphreys-Beher, Imai, Ito, Itoh, Jego, Jin, Kaksonen, Kanto, Kwok, Kwok, Lande, Latz, Le Bon, Le Bon, Leverrier, Litinskiy, Locci, Lorenzi, Luigi Daniele Notarangelo, Lövgren, Maillard, Marangoni, Marco Catucci, Maria Carmina Castiello, Mayrel Labrada, Means, Merrifield, Meyer-Bahlburg, Migita, Mirjam van der Burg, Morales-Tirado, Murai, Nestle, Nguyen, Nikolov, Ohashi, Orange, Pascual, Pau, Presicce, Prinz, Pulecio, Recher, Robbert Bredius, Sanjuan, Santiago-Raber, Sasahara, Sasai, Sasai, Shimizu, Sims, Snapper, Snapper, Sophie Hambleton, Stefania Gobessi, Strom, Takenawa, Thrasher, Trifari, Trifari, Tsuboi, Ulrich Kalinke, Vallin, van Baarsen, van der Pouw Kraan, Vermi, Vermi, Wengler, Westerberg, Westerberg, William Vermi, Zhu   +115 more
core   +9 more sources

An overview of reproductive carrier screening panels for autosomal recessive and/or X‐linked conditions: How much do we know?

Prenatal Diagnosis, Volume 43, Issue 11, Page 1416-1424, October 2023., 2023
Abstract Background & Aim Reproductive carrier screening seeks to identify couples at a high risk of having offspring affected by autosomal recessive and X‐linked (XL) conditions. The aim of this paper is to provide a comprehensive overview of existing carrier screening panels by examining their gene content and characteristics, identifying the most ...
Tianjiao Wang, Paul Scuffham, Joshua Byrnes, Martin B. Delatycki, Martin Downes   +4 more
wiley   +1 more source