Results 61 to 70 of about 1,141,621 (185)

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

Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata

Journal of Lipid Research, 2012
Many cell surface proteins in mammalian cells are anchored to the plasma membrane via glycosylphosphatidylinositol (GPI). The predominant form of mammalian GPI contains 1-alkyl-2-acyl phosphatidylinositol (PI), which is generated by lipid remodeling from
Noriyuki Kanzawa, Nobuyuki Shimozawa, Ronald J.A. Wanders, Kazutaka Ikeda, Yoshiko Murakami, Hans R. Waterham, Satoru Mukai, Morihisa Fujita, Yusuke Maeda, Ryo Taguchi, Yukio Fujiki, Taroh Kinoshita   +11 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

Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment

, 1987
In patients with cerebro-hepato-renal (Zellweger) syndrome, the absence of peroxisomes results in an impairment of metabolic processes in which peroxisomes are normally involved.
H. van den Bosch, Heymans, H. S., Schrakamp, G., van den Bosch, H., G. Schrakamp, Schutgens, R. B., R. J. A. Wanders, J. M. Tager, H. S. A. Heymans, A. W. Schram, Tager, J. M., R. B. H. Schutgens, Wanders, R. J., Schram, A. W.   +13 more
core   +1 more source

Trogen, Kantonsbibliothek Appenzell Ausserrhoden, Fa Zellweger 90/A : 01.1 : Chronicle of the Zellweger family, vol. 1

, 1891
Album with depictions of members of the Zellweger family of textile merchants from Trogen, with biographical texts on the male representatives of the family.
Zellweger, Victor Eugen
core   +1 more source

Biochemical and clinical profiles of 52 Tunisian patients affected by Zellweger syndrome

Pediatrics and Neonatology, 2017
Background: Zellweger syndrome (ZS) is a peroxisome biogenesis disorder attributed to a mutation of the PEX genes family. The incidence of this disease in Africa and the Arab world remains unknown.
Fahmi Nasrallah, Wiem Zidi, Moncef Feki, Samia Kacem, Neji Tebib, Naziha Kaabachi   +5 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Pathogenesis of peroxisomal deficiency disorders (Zellweger syndrome) may be mediated by misregulation of the GABAergic system via the diazepam binding inhibitor

BMC Pediatrics, 2004
Background Zellweger syndrome (ZS) is a fatal inherited disease caused by peroxisome biogenesis deficiency. Patients are characterized by multiple disturbances of lipid metabolism, profound hypotonia and neonatal seizures, and distinct craniofacial ...
Breitling Rainer
doaj   +1 more source

Exercise affects systemic basophil responses in humans: Applying an automated and modified basophil activation test (mBAT) in a field study

Cytometry Part B: Clinical Cytometry, Volume 110, Issue 2, Page 92-101, March 2026.
Abstract Basophils are effector cells in type I hypersensitivity reactions. Upon cross‐linking of surface‐bound (allergen‐specific) IgE, basophils release a variety of mediators. Determining the activation of basophils ex vivo with anti‐IgE (a basophil activation test or BAT) can be achieved using flow cytometry.
T. C. Pelgrim, B. N. Jukema, L. Koopmans, C. C. W. G. Bongers, M. T. E. Hopman, E. F. Knol, N. Vrisekoop, L. Koenderman   +7 more
wiley   +1 more source

Subependymal germinolytic cysts in Zellweger syndrome

, 1995
Ultrasonographic demonstration of periventricular cysts is usually associated with cystic periventricular leucomalacia due to necrosis of periventricular unmyelinated white matter.
Barth, P. G., van Straaten, H. L., Russel, I. M., Van Sonderen, L.   +3 more
core   +1 more source