S Ferdinandusse
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Explore the profile of S Ferdinandusse including associated specialties, affiliations and a list of published articles.
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31
Citations
702
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Recent Articles
1.
Abdenur J, Sowa M, Simon M, Steenari M, Skaar J, Eftekharian S, et al.
Mol Genet Metab Rep
. 2020 Jul;
24:100617.
PMID: 32642440
No abstract available.
2.
Maxit C, Denzler I, Marchione D, Agosta G, Koster J, Wanders R, et al.
JIMD Rep
. 2016 Aug;
34:71-75.
PMID: 27557811
Background: Peroxisome biogenesis disorders (PBDs) may have a variable clinical expression, ranging from severe, lethal to mild phenotypes with progressive evolution. PBDs are autosomal recessive disorders caused by mutations in...
3.
Bala P, Ferdinandusse S, Olpin S, Chetcuti P, Morris A
JIMD Rep
. 2015 Sep;
27:11-5.
PMID: 26404458
We report a baby with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency who presented on day 2 with poor feeding and lethargy. She was floppy with hypoglycaemia (1.8 mmol/l) and hyperammonaemia...
4.
Boemer F, Deberg M, Schoos R, Caberg J, Gaillez S, Dugauquier C, et al.
Clin Genet
. 2015 Apr;
89(2):193-7.
PMID: 25827434
Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inborn error of mitochondrial fatty acid metabolism associated with various phenotypes. Whereas most patients present with postnatal signs of energetic failure affecting...
5.
van der Knaap M, Wassmer E, Wolf N, Ferreira P, Topcu M, Wanders R, et al.
Neurology
. 2012 Mar;
78(17):1304-8.
PMID: 22459681
Objective: Peroxisomal blood tests are generally considered to be conclusive. We observed several patients with a clinical and MRI phenotype suggestive of an infantile onset peroxisomal defect, but no convincing...
6.
Wanders R, Ferdinandusse S, Brites P, Kemp S
Biochim Biophys Acta
. 2010 Jan;
1801(3):272-80.
PMID: 20064629
Peroxisomes play an essential role in cellular lipid metabolism as exemplified by the existence of a number of genetic diseases in humans caused by the impaired function of one of...
7.
Thompson S, Calvin J, Hogg S, Ferdinandusse S, Wanders R, Barker R
J Neurol Neurosurg Psychiatry
. 2007 Nov;
79(4):448-50.
PMID: 18032455
Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare disorder of fatty acid metabolism which has recently been described in three adult cases. We have identified a further patient with clinical features...
8.
Gloerich J, Van den Brink D, Ruiter J, van Vlies N, Vaz F, Wanders R, et al.
J Lipid Res
. 2006 Oct;
48(1):77-85.
PMID: 17015885
Phytol, a branched-chain fatty alcohol, is the naturally occurring precursor of phytanic and pristanic acid, branched-chain fatty acids that are both ligands for the nuclear hormone receptor peroxisome proliferator-activated receptor...
9.
Gloerich J, IJlst L, Wanders R, Ferdinandusse S
Mol Genet Metab
. 2006 Jul;
89(1-2):111-5.
PMID: 16837225
Sjögren-Larsson syndrome (SLS) is caused by a deficiency of fatty aldehyde dehydrogenase (FALDH), encoded by the ALDH3A2 gene. In animal studies, the expression of the murine ortholog of FALDH, has...
10.
Rosewich H, Waterham H, Wanders R, Ferdinandusse S, Henneke M, Hunneman D, et al.
Neuropediatrics
. 2006 Jun;
37(2):95-8.
PMID: 16773508
We present a rare case of peroxisomal acyl-CoA oxidase deficiency that was not detected by the common metabolic screening program for peroxisomal disorders. The patient presented with a typical MRI...