Results 81 to 90 of about 2,517,871 (188)
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
Immune Dysregulation in a Child With SOD1‐Related Neurological Disease
American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.ABSTRACT Spastic tetraplegia and axial hypotonia (STAHP) associated with biallelic SOD1 deficiency is a recently described neurological disorder affecting children. Five studies have described a total of nine cases thus far, all characterized by the onset of progressive spastic tetraplegia beginning before 2 years of age. All but two of these cases are
Rozlyn Claire Thomas Boutin +5 more
wiley +1 more source
Absorption of chlorophyll phytol in normal man and in patients with Refsum's disease
Journal of Lipid Research, 1968 This study was made to determine the extent of absorption of chlorophyll phytol from the intestine of man, and the importance of chlorophyll as a source of the phytanic acid that accumulates in Refsum's disease. Uniformly 14C-labeled pheophytin a (the Mg-
James H. Baxter
doaj +1 more source
Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid
, 2007 In the present paper, we describe the current state of knowledge regarding the enzymology of the phytanic acid alpha-oxidation pathway. The product of phytanic acid alpha-oxidation, i.e.
Komen, J. C., Wanders, R. J. A.
core +1 more source
Stereochemistry of the α-oxidation of 3-methyl-branched fatty acids in rat liver
Journal of Lipid Research, 1999 The stereochemistry of the α-oxidation of 3-methyl-branched fatty acids was studied in rat liver. R- and S-3-methylhexadecanoic acid were equally well α-oxidized in intact hepatocytes and homogenates.
Kathleen Croes +4 more
doaj +1 more source
Phytanic Acid Intake and Lifestyle Modifications on Quality of Life in Individuals with Adult Refsum Disease: A Retrospective Survey Analysis. [PDF]
Nutrients, 2023 Li JJ, Kim JJ, Nausheen F.
europepmc +1 more source
Phytanic acid α-oxidation in peroxisomal disorders: Studies in cultured human fibroblasts [PDF]
, 1997 We studied the α-oxidation of phytanic acid in human fibroblasts of controls and patients affected with classical Refsum disease, rhizomelic chondrodysplasia punctata, generalized peroxisomal disorders and peroxisomal bifunctional protein deficiency ...
Schor, D. S. +9 more
core +1 more source
, 1996 Up till now, errors of phytanic acid metabolism in children with peroxisomal disorders have been estimated by measuring 14CO2 formation from 1-14C-labelled phytanic acid in different systems.
Kase, BF, Björkhem, I,
core +1 more source
, 2000 Phytanic acid and pristanic acid are branched-chain fatty acids, present at micromolar concentrations in the plasma of healthy individuals. Here we show that both phytanic acid and pristanic acid activate the peroxisome proliferator-activated receptor ...
Jansen, G. A. +5 more
core
Genetic testing for Refsum disease
The EuroBiotech Journal, 2017 We reviewed the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Refsum disease. The disease has autosomal recessive inheritance, unknown prevalence, and is caused by variations in PEX7 and ...
Abeshi Andi +5 more
doaj +1 more source