Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

Autor: Elise Vantroys, Joél Smet, Arnaud V. Vanlander, Sarah Vergult, Ruth De Bruyne, Frank Roels, Hedwig Stepman, Herbert Roeyers, Björn Menten, Rudy Van Coster

Publikováno v: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)

Abstract Background The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phe

Externí odkaz: https://doaj.org/article/c03422226e3b403eb6c94ac47af03afc

P0125ELECTRON MICROSCOPIC DESCRIPTION OF A SENSITIVE DIAGNOSTIC PROXIMAL EPITHELIAL LYSOSOMAL LESION IN PATIENTS WITH CINAC/CKDU/MEN AND CNI NEPHROTOXICITY

Autor: Gerd Schreurs, Nika Kojc, Swarnalata Gowrishankar, Vincent Vuiblet, Claire Rigothier, Patrick C. D'Haese, Rajeewa Dassanayake, Marc E. De Broe, Sonali Rodrigo, Christiane Mousson, Vahid Samaee, Chula Herath, Carlos M. Orantes, Cynthia C. Nast, Benjamin A. Vervaet, Frank Roels, Channa Jayasumana

Publikováno v: Nephrology Dialysis Transplantation. 35

Background and Aims In CINAC patients from Sri Lanka, we recently observed a sensitive constellation of proximal tubular cell findings including cellular/tubular atrophy, cell fragment shedding and, by electron microscopy (EM), the presence of an inc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::55b9470ae508be813a65dfae91d5e340
https://doi.org/10.1093/ndt/gfaa142.p0125

Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder

Autor: Marc Engelen, Kevin Berendse, Miangela M Lacle, Bwee Tien Poll-The, Frank Roels, Femke C. C. Klouwer, Joanne Verheij, Peter G.J. Nikkels, Bart G. P. Koot

Publikováno v: JOURNAL OF INHERITED METABOLIC DISEASE
Journal of inherited metabolic disease, 42(5), 955-965. Springer Netherlands

Patients with a Zellweger spectrum disorder (ZSD) have a defect in the assembly or maintenance of peroxisomes, leading to a multisystem disease with variable outcome. Liver disease is an important feature in patients with severe and milder phenotypes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26398b57937b2d356a73b4a79cac6c8e
https://pubmed.ncbi.nlm.nih.gov/31150129

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

Autor: Ligia Almeida, Marc Espeel, Annette G Reimer, Arjan P.M. de Brouwer, Saskia B. Wortmann, Frank Roels, Dennis Bosboom, Ron A. Wevers

Publikováno v: Journal of Inherited Metabolic Disease, 38, 1, pp. 99-110
Journal of Inherited Metabolic Disease, 38, 99-110

Contains fulltext : 153136.pdf (Publisher’s version ) (Closed access) Since the proposal to define a separate subgroup of inborn errors of metabolism involved in the biosynthesis and remodelling of phospholipids, sphingolipids and long chain fatty

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44abeae211f40045f27a9eb1cfac2d59
https://doi.org/10.1007/s10545-014-9759-7

Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator

Autor: Alain Beley, Stéphane Savary, Françoise Cadepond, Sabrina Leclercq, Stéphane Fourcade, Maurice Bugaut, Pascal G.P. Martin, Maria Rita Lecca, Thierry Pineau, Nathalie Bertrand, Catherine Gondcaille, Dirk De Craemer, Marianne Depreter, Sandrine Duclos, Frank Roels, Martine El-Etr

Publikováno v: The Journal of Cell Biology
JOURNAL OF CELL BIOLOGY
Journal of Cell Biology
Journal of Cell Biology, Rockefeller University Press, 2005, 169 (1), pp.93-104. ⟨10.1083/jcb.200501036⟩

X-linked adrenoleukodystrophy (X-ALD) is a demyelinating disease due to mutations in the ABCD1 (ALD) gene, encoding a peroxisomal ATP-binding cassette transporter (ALDP). Overexpression of adrenoleukodystrophy-related protein, an ALDP homologue encod

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25aa07885c579bd3fd92d3f0f9c7e67b
http://europepmc.org/articles/PMC2171887