Results 51 to 60 of about 4,864,231 (177)

Sporadic Refsum-Thiébaut disease in a family with 3 cases of ichthyosis simplex [Malattia di Refsum Thiebaut sporadica in una famiglia con tre casi di ittiosi semplice]

, 1974
A case of Refsum disease is described. The parents of the patient were not related. In this family there are 3 cases with ichthyosis simplex without Refsum disease and one case, the propositus, with heredopathia atactica polyneuritiformis and ichthyosis.
Carlomagno, S., Labella, A., Giordano, G. G., Federico, A., Guazzi, G. C., Pascotto, A., Balbi, R.   +6 more
core   +1 more source

Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata

Journal of Lipid Research, 1996
In humans the oxidation of phytanic acid is a peroxisomal function. To understand the possible mechanisms for the pathognomic accumulation of phytanic acid in plasma and body fluids of Refsum disease (RD) and rhizomelic chondrodysplasia punctata (RCDP ...
K Pahan, M Khan, I Singh
doaj   +1 more source

Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis

The Journal of Physiology, Volume 603, Issue 22, Page 6949-6977, November 15, 2025.
Abstract figure legend Intrafusal muscles contained within muscle spindles are endowed with ryanodie receptor 1 (RyR1) calcium channels and participate in proprioceptor function. Mutations in RyR1 linked to severe RYR1‐congenital myopathies affect calcium release from both extrafusal as well as intrafusal muscles.
Alexis Ruiz, Sofia Benucci, Hervé Meier, Georg Schultz, Katarzyna Buczak, Christoph Handschin, Rodrigo C. G. Pena, Susan Treves, Francesco Zorzato   +8 more
wiley   +1 more source

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.

, 2008
Refsum disease is caused by a deficiency of phytanoyl-CoA hydroxylase (PHYH), the first enzyme of the peroxisomal alpha-oxidation system, resulting in the accumulation of the branched-chain fatty acid phytanic acid.
van der Saag, Paul T., Thanos, M., Brites, P., Zomer, Anna W. M., Wanders, Ronald J. A., van den Brink, Christina E., van der Saag, P.T., Hamers, Frank P. T., Ferdinandusse, Sacha, Thanos, Melissa, Wanders, R.J.A.T., Brites, Pedro, Komen, J.C., Poll-The, Bwee Tien, Ferdinandusse, S., Poll-The, B.T., Hamers, F.P.T., van den Brink, C., Zomer, A.W.M., Komen, Jasper C.   +19 more
core   +1 more source

Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder

, 1992
This article describes two siblings with infantile Refsum disease (IRD) whose initial presentation was that of malabsorption and mimicked a-beta- or homozygous hypo-beta-lipoproteinemia.
Schutgens, R. B., Berant, M., Meiron, D., Mandel, H., Wanders, R. J.   +4 more
core   +1 more source

Experiencia diagnóstica y de atención integral de enfermedad de Refsum en el Hospital Pablo Tobón Uribe [PDF]

, 2009
Objective: To describe the clinical and diagnostic experience regarding Refsum disease of an interdisciplinary group focusing on children diagnosed with innate errors of metabolism. Type of study: Case report. Methods: Retrospective and systematic review
Payán Gómez, Catalina, Rincón Caballero, Olga Lucía, Cabrales Camacho, Lina María, Flórez Gómez, Óscar Yezid, Hincapié Echavarría, Mónica María, Henao Roldán, Caterine, Aristizábal Bernal, Beatriz Helena   +6 more
core   +1 more source

Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India

Annals of Indian Academy of Neurology, 2015
Aims: To find out the prevalence and types of neurological abnormalities associated in auditory neuropathy spectrum disorder in a large tertiary referral center.
Anjali Lepcha, Reni K Chandran, Mathew Alexander, Ann Mary Agustine, K Thenmozhi, Achamma Balraj   +5 more
doaj   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

A novel Refsum-like disorder that maps to chromosome 20

, 2008
OBJECTIVE: Clinical and genetic characterization of a neurologic disorder resembling Refsum disease in a Norwegian consanguineous family. METHODS: The affected individuals comprise a brother and sister and their third cousin.
Boman, H., T. Fiskerstrand, H. Boman, Bindoff, L. A., R. J. Wanders, L. A. Bindoff, Majewski, J., Fiskerstrand, T., Knappskog, P., Wanders, R. J., J. Majewski, P. Knappskog   +11 more
core   +1 more source

Phytanic acid activation in rat liver peroxisomes is catalyzed by long-chain acyl-CoA synthetase

Journal of Lipid Research, 1996
In Refsum disease, disorders of peroxisome biogenesis, and rhizomelic chondrodysplasia punctata, pathological accumulation of phytanic acid results from impaired alpha-oxidation of this branched-chain fatty acid.
P A Watkins, A E Howard, S J Gould, J Avigan, S J Mihalik   +4 more
doaj   +1 more source