Results 51 to 60 of about 24,501 (230)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Modern problems of diagnosis of autism [PDF]

Психологическая наука и образование (2007. Online), 2014
After a brief analysis of the autism problem history in domestic and foreign literature, the authors clarifiy the concept of autism as a form of personality pathology.
N.M. Iovchuk, A.A. Severnyi
doaj  

Beneficial Effects of GLP-1 Agonist in a Male With Compulsive Food-Related Behavior Associated With Autism

Frontiers in Psychiatry, 2019
Individuals with autism spectrum disorder (ASD) frequently display intensely repetitive, restricted thoughts, and behaviors. These behaviors have similarities to compulsions and/or obsessions in obsessive compulsive disorder (OCD) and are primarily ...
Anna Järvinen, Merja K. Laine, Roope Tikkanen, Maija L. Castrén, Maija L. Castrén   +4 more
doaj   +1 more source

Autism = Death: The social and medical impact of a catastrophic medical model of autistic spectrum disorders [PDF]

, 2008
This discussion interrogates the continuing impact of the pervasive and persistent usage of debilitating metaphors perpetuating ‘historical’ superstitions, myths and beliefs surrounding disability.
Waltz, Mitzi
core   +1 more source

Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy affects up to 90% of patients with tuberous sclerosis complex (TSC); earlier seizure onset is associated with worse neurocognitive outcomes. The incidence of neonatal seizures in TSC is unknown, although in a recent multicenter trial 23% of infants with TSC were excluded prior to randomization because of pre‐existing ...
Kristina Jülich, Kristen Arredondo
wiley   +1 more source

Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder

Molecular Cytogenetics, 2020
Background Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC carriers.
Yinghong Lu, Yi Liang, Sisi Ning, Guosheng Deng, Yuling Xie, Jujie Song, Na Zuo, Chunfeng Feng, Yunrong Qin   +8 more
doaj   +1 more source

Psychotic spectrum disorders in childhood [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2008
For a long time, there was a strong belief of existing continuity between childhood-onset psychoses and adult psychoses. Important moment in understanding psychotic presentations during infancy and childhood is Kanner's description of early infantile ...
Popović-Deušić Smiljka, Pejović-Milovančević Milica, Draganić-Gajić Saveta, Aleksić-Hil Olivera, Lečić-Toševski Dušica   +4 more
doaj   +1 more source

Epileptic manifestations, cognitive impairment and autism spectrum disorders in patients with agenesis of the corpus callosum: the results of neuropsychological testing

Эпилепсия и пароксизмальные состояния, 2019
Aim. To assess the epileptic, cognitive and autistic manifestations of agenesis of the corpus callosum (ACC) in children.Material and methods. Clinical characteristics of 31 patients (median age 6.6±0.9 years) with ACC were studied.
O. A. Milovanova, O. A. Коmissarovа, T. Yu. Tarakanova, S. V. Bugry, G. G. Avakyan   +4 more
doaj   +1 more source

The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children

Frontiers in Pediatrics, 2021
Objectives: To study the genetic and clinical characteristics of Chinese children with pathogenic proline-rich transmembrane protein 2 (PRRT2) gene-associated disorders.Methods: Targeted next generation sequencing (NGS) was used to identify pathogenic ...
Han-yu Luo, Han-yu Luo, Ling-ling Xie, Ling-ling Xie, Si-qi Hong, Si-qi Hong, Xiu-juan Li, Xiu-juan Li, Mei Li, Mei Li, Yue Hu, Yue Hu, Jian-nan Ma, Jian-nan Ma, Peng Wu, Peng Wu, Min Zhong, Min Zhong, Min Cheng, Min Cheng, Ting-song Li, Ting-song Li, Li Jiang, Li Jiang   +23 more
doaj   +1 more source

Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults. [PDF]

, 2019
Thiamine (vitamin B1) is an essential nutrient that serves as a cofactor for a number of enzymes, mostly with mitochondrial localization. Some thiamine-dependent enzymes are involved in energy metabolism and biosynthesis of nucleic acids whereas others ...
Adams, Alfadhel, Alfadhel, Alfadhel, Aljabri, Anwar, Aronson, Arts, Attwell, Baio, Banka, Barennes, Benton, Bettendorff, Bettendorff, Biesecker, Brown, Butterworth, Butterworth, Butterworth, Calhau, Carney, Chandrakumar, Chen, Cheung, Chornyy, Chugani, Colbert, Croft, Day, De Meirleir, Fattal-Valevski, Fattal-Valevski, Fleming, Forouhi, Foulon, Foulon, Fraccascia, Fraccascia, Fraser, Frustaci, Fujita, Galvin, Ganapathy, Gangolf, Ganie, Ghaleiha, Gibson, Giulivi, Gold, Greenwood, Gu, Harel, Hiffler, Hilker, Inaba, Ishaque, Israels, Jankowska-Kulawy, Junior, Kamasak, Karabatsiakis, Kelley, Kerns, Khaw, Kitamura, Kornreich, Kril, Laforenza, Leichter, Lindhurst, Liu, Lonsdale, Lonsdale, Lonsdale, Lorber, Lu, Lukienko, Luxemburger, Lương, Ma, Magos, Mahajan, Mahmood, Martel, Martin, Mayr, McLure, Mergenthaler, Mezzar, Mimouni-Bloch, Molina, Mulholland, Mulle, Muoio, Murata, Nabokina, Nabokina, Nardone, Navarro, Nikseresht, Obrenovich, Oishi, Opdenakker, Ortega Garcia, Ortigoza-Escobar, Pepersack, Perez-Duenas, Plaitakis, Prabakaran, Prohaska, Rabie, Randle, Renthal, Rindi, Rindi, Robinson, Roust, Rubio-Lopez, Said, Schaller, Scrimshaw, Sequeira Lopes da Silva, Shi, Singleton, Siu, Skjeldal, Smidt, Society, Song, Sperringer, Spiegel, Stargrove, Subramanian, Subramanian, Sweet, Tabarki, Talwar, Thomson, Thornalley, van den Brink, Vasconcelos, Vernau, Vernau, Vimokesant, Watkins, Wendel, Whitfield, Whitfield, Wierzbicki, Williams, Yang, Zhang, Zhao, Zuccoli   +154 more
core   +2 more sources