Results 81 to 90 of about 4,864,231 (177)

Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy

, 2010
Adult Refsum disease is characterized by an elevated plasma phytanic acid level and high concentrations of phytanic acid in a variety of tissues. Besides tapetoretinal degeneration.
Klaus Rüether, Morten Horn, Eleanor Baldwin, Casteels, Minne, Horn, Morten, Wierzbicki, Anthony S, Ronald J. Wanders, Feher, Michael D., Kuranoff, Susan, Leroy, Bart P., Feher, Michael D, Minne Casteels, Wierzbicki, Anthony S., Rüether, Klaus, Baldwin, Eleanor, Wanders, Ronald J., Bart P. Leroy, Leroy, Bart, Michael D. Feher, Susan Kuranoff, Wanders, Ronald J, Anthony S. Wierzbicki   +21 more
core   +1 more source

Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease. [PDF]

FEBS J, 2020
Wegrzyn AB, Herzog K, Gerding A, Kwiatkowski M, Wolters JC, Dolga AM, van Lint AEM, Wanders RJA, Waterham HR, Bakker BM.   +9 more
europepmc   +1 more source

Body Awareness and Liturgical Reform, Experiences from a collaborative workshop held by a Dancer and a visual Artist.

, 2009
Bidrag til konferansen "Religion and Politics of the Body", Reykjavik, Island. 26.06.2009 - 28.06.2009.
Refsum, Grete, Rimestad, Ingunn
core   +1 more source

Genuine Christian Modern Art : Present Roman Catholic Directives on Visual Art Seen from an Artist’s Perspective

, 2000
The Professional Problem of the Artist The professional problem of artists who want to produce art for Christian use is to find artistic solutions that may satisfy both patron and artist.
Refsum, Grete
core  

Fifth disease (slapped cheek syndrome)

, 2015
What is fifth disease Fifth disease, which is also known as ?slapped cheek syndrome? or erythema infectiosum is a common viral infection caused by parvovirus B19.
Centre for Disease Control
core  

Refsum disease [PDF]

, 2020
openaire   +3 more sources

Refsum Disease Presenting with a Late-Onset Leukodystrophy. [PDF]

JIMD Rep, 2015
Bompaire F, Marcaud V, Trionnaire EL, Sedel F, Levade T.   +4 more
europepmc   +1 more source

Impaired Kidney Function With Kidney Tubular Vacuolization and Crystals in Adult Refsum Disease: A Case Report. [PDF]

Kidney Med
Lee CYJ, Elliott MD, Lehman A, Farah M, McRae SA, Riazy M.   +5 more
europepmc   +1 more source

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. [PDF]

JIMD Rep, 2016
Sá MJ, Rocha JC, Almeida MF, Carmona C, Martins E, Miranda V, Coutinho M, Ferreira R, Pacheco S, Laranjeira F, Ribeiro I, Fortuna AM, Lacerda L.   +12 more
europepmc   +1 more source

Brain Lipotoxicity of Phytanic Acid and Very Long-chain Fatty Acids. Harmful Cellular/Mitochondrial Activities in Refsum Disease and X-Linked Adrenoleukodystrophy. [PDF]

Aging Dis, 2016
Schönfeld P, Reiser G.
europepmc   +1 more source