Results 41 to 50 of about 2,160,111 (122)

Eye movement sequences during simple versus complex information processing of scenes in autism spectrum disorder [PDF]

, 2011
Minshew and Goldstein (1998) postulated that autism spectrum disorder (ASD) is a disorder of complex information processing. The current study was designed to investigate this hypothesis.
Monica Castelhano, Benson, Valerie, Sheena K. Au-Yeung, Valerie Benson, Keith Rayner, Au-Yeung, Sheena K., Au-Yeung, Sheena K., Castelhano, Monica, Rayner, Keith   +8 more
core   +1 more source

Plasma Very‐Long‐Chain Fatty Acids in X‐Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort

Journal of Clinical Laboratory Analysis, Volume 40, Issue 14, July 2026.
Plasma VLCFA levels are increased in symptomatic X‐linked adrenoleukodystrophy, particularly in patients with cerebral involvement. However, they do not reliably predict disease progression or longitudinal changes. These findings support their diagnostic value while highlighting the need for more robust prognostic biomarkers in clinical practice ...
Sergio Molina Blas, Sergio Pérez Pujalte, Ana Moreno Álvarez, Ana Isabel Álvarez Ríos, Beatriz Muñoz Cabello, Constanza Navarro Moreno, Ana Lucia Gómez Gila, Elena Dios Fuentes, Eva Venegas Moreno, Carmen Delgado Pecellín   +9 more
wiley   +1 more source

Self-referential memory in autism spectrum disorder and typical development: Exploring the ownership effect [PDF]

, 2014
Owned objects occupy a privileged cognitive processing status and are viewed almost as extensions of the self. It has been demonstrated that items over which a sense of ownership is felt will be better recalled than other items.
Lind, Sophie E., Eacott, M.J., Grisdale, E., Lind, S. E., Williams, David M., Eacott, M. J., Grisdale, E, Grisdale, Emma, Eacott, Madeline J., Williams, D. M.   +9 more
core   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Fetal Alcohol Spectrum Disorder

, 2018
This video provides an overview of Fetal Alcohol Spectrum Disorder, how to support children and how to work sensitively with ...
Blackburn, Carolyn
core   +3 more sources

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease

Molecular Genetics and Metabolism Reports, 2020
Introduction: Peroxisomal D-bifunctional protein (DBP) deficiency is an autosomal recessive disorder historically described as a Zellweger-like syndrome comprising neonatal seizures, retinopathy, hearing loss, dysmorphic features, and other complications.
Yuval E. Landau, Gali Heimer, Ortal Barel, Nechama Shalva, Dina Marek-Yagel, Alvit Veber, Elisheva Javasky, Aya Shilon, Andreea Nissenkorn, Bruria Ben-Zeev, Yair Anikster   +10 more
doaj   +1 more source

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, Volume 200, Issue 6, Page 1179-1191, June 2026.
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

Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 561-578, June 2026.
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken, Noud Frielink, Andrew Jahoda, Petri J. C. M. Embregts   +3 more
wiley   +1 more source

Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders

Frontiers in Cell and Developmental Biology, 2020
Peroxisomes are subcellular organelles that are involved in various important physiological processes such as the oxidation of fatty acids and the biosynthesis of bile acids and plasmalogens.
Yorrick R. J. Jaspers, Sacha Ferdinandusse, Inge M. E. Dijkstra, Rinse Willem Barendsen, Henk van Lenthe, Wim Kulik, Marc Engelen, Susan M. I. Goorden, Frédéric M. Vaz, Stephan Kemp, Stephan Kemp   +10 more
doaj   +1 more source

Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere)

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Adult Refsum disease (ARD; OMIM 266510) is a degenerative autosomal recessive condition typically diagnosed in adulthood. It affects visual, auditory and nervous system function. It is characterised by plasma, neuro‐ophthalmological and adipose tissue accumulation of the dietary‐derived phytanic acid (PA).
Radha Ramachandran, Raphael Buttigieg, Florian Eichler, Bart P. Leroy, Omar Mahroo, Rachel M. Huckfeldt, Sarah Firman, Eleanor Baldwin, Kristie DeMarco, Susan Kuranoff, Amena Fine, Reinhard Klingel, Sacha Ferdinandusse, Joseph G. Hacia, Ronald J. Wanders, Anthony S. Wierzbicki   +15 more
wiley   +1 more source