Results 61 to 70 of about 1,180,431 (171)
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 +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 +3 more
wiley +1 more source
Sjogren-Larsson syndrome in dizygous twin sisters
, 1980 Two dizygous twin sisters with the Sjogren-Larsson syndrome are described. There was parental consanguinity, and the condition is inherited as an autosomal recessive. The main features are mental retardation, spastic diplegia and ichthyosis.
David, T. J.
core +1 more source
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley +1 more source
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
Journal of Intellectual Disability Research, Volume 69, Issue 1, Page 1-29, January 2025.Abstract Background Collaboration with healthcare professionals is crucial in arranging necessary lifelong support for people with intellectual disabilities. However, family members often face challenges when collaborating with healthcare professionals.
K. van Beurden +3 more
wiley +1 more source
Sjogren-Larsson syndrome: 2 case reports
, 2012 Sjogren-Larsson syndrome (SLS) is a neurocutaneous autosomal recessive disease caused by fatty aldehyde dehydrogenase (FADH) deficiency. This enzyme is involved in the biosynthesis pathways of some fatty acids, phytanic acid, and leukotrienes.
Bellavoine, V. +7 more
core +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. +7 more
core +1 more source
Analysis and update of the human aldehyde dehydrogenase (
Human Genomics, 2005 The aldehyde dehydrogenase (ALDH) gene superfamily encodes enzymes that are critical for certain life processes and detoxification via the NAD(P)+-dependent oxidation of numerous endogenous and exogenous aldehyde substrates, including pharmaceuticals and
Vasiliou Vasilis, Nebert Daniel W
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.Abstract Mental illnesses are one of the biggest contributors to the global disease burden. Despite the increased recognition, diagnosis and ongoing research of mental health disorders, the etiology and underlying molecular mechanisms of these disorders are yet to be fully elucidated.
Venuja Sriretnakumar +3 more
wiley +1 more source