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Bwee Tien Poll-The
Researcher at University of Amsterdam
Publications - 79
Citations - 4240
Bwee Tien Poll-The is an academic researcher from University of Amsterdam. The author has contributed to research in topics: Peroxisomal disorder & Zellweger syndrome. The author has an hindex of 27, co-authored 79 publications receiving 3656 citations. Previous affiliations of Bwee Tien Poll-The include University of Groningen & Boston Children's Hospital.
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Journal ArticleDOI
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Marc Engelen,Stephan Kemp,Marianne de Visser,Björn M. van Geel,Ronald J.A. Wanders,Patrick Aubourg,Bwee Tien Poll-The +6 more
TL;DR: This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder.
Journal ArticleDOI
Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder
Wilhelmina G. Leen,Joerg Klepper,Marcel M. Verbeek,Maike Leferink,Tom G.J. Hofste,Baziel G.M. van Engelen,Ron A. Wevers,Todd Arthur,Nadia Bahi-Buisson,Diana Ballhausen,Jolita Bekhof,Patrick Van Bogaert,Ines Carrilho,Brigitte Chabrol,Michael Champion,James Coldwell,Peter E. Clayton,Elizabeth J. Donner,Athanasios Evangeliou,F. Ebinger,Kevin Farrell,Rob Forsyth,Christian de Goede,Stephanie Gross,Stephanie Grunewald,Hans Holthausen,Sandeep Jayawant,Katherine Lachlan,Vincent Laugel,Kathy Leppig,Ming K. Lim,Grazia M.S. Mancini,Adela Della Marina,Loreto Martorell,Joe McMenamin,Marije E. C. Meuwissen,Helen Mundy,Nils O. Nilsson,Axel Panzer,Bwee Tien Poll-The,C. Rauscher,Christophe M. R. Rouselle,Inger Sandvig,Thomas Scheffner,Eamonn Sheridan,Neil Simpson,Parol Sykora,Richard Tomlinson,John Trounce,David Webb,Bernhard Weschke,Hans Scheffer,Michèl A.A.P. Willemsen +52 more
TL;DR: It is demonstrated that a lumbar puncture provides the diagnostic clue to glucose transporter-1 deficiency syndrome and can thereby dramatically reduce diagnostic delay to allow early start of the ketogenic diet.
Journal Article
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).
Bwee Tien Poll-The,Frank Roels,Hélène Ogier,Jacques Scotto,Joseph Vamecq,Ruud B.H. Schutgens,R. J. A. Wanders,C. W. T. van Roermund,M.J.A. van Wijland,AndréW. Schram +9 more
TL;DR: The clinical, biochemical, and cytochemical features found in these two siblings are compared with those seen in two other disorders characterized by the absence of a decreased number of hepatic peroxisomes and the presence of VLCFA.
Journal ArticleDOI
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Birgit Budde,Yasmin Namavar,Peter G. Barth,Bwee Tien Poll-The,Gudrun Nürnberg,Christian Becker,Fred van Ruissen,Marian A. J. Weterman,Kees Fluiter,Erik T. Te Beek,Eleonora Aronica,Marjo S. van der Knaap,Wolfgang Höhne,Mohammad R. Toliat,Yanick J. Crow,Maja Steinlin,Thomas Voit,Filip Roelens,Wim Brussel,Knut Brockmann,Mårten Kyllerman,Eugen Boltshauser,Gerhard Hammersen,Michèl A.A.P. Willemsen,Lina Basel-Vanagaite,Ingeborg Krägeloh-Mann,Linda S. de Vries,László Sztriha,Francesco Muntoni,Colin D. Ferrie,Roberta Battini,Raoul C.M. Hennekam,Eugenio Grillo,Frits A. Beemer,Loes M E Stoets,Bernd Wollnik,Peter Nürnberg,Frank Baas +37 more
TL;DR: This work identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex that point to RNA processing as a new basic cellular impairment in neurological disorders.
Journal ArticleDOI
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
Yasmin Namavar,Peter G. Barth,Paul R. Kasher,Fred van Ruissen,Knut Brockmann,G. Bernert,Karin Writzl,Karen Ventura,Edith Cheng,Donna M. Ferriero,Lina Basel-Vanagaite,Veerle Rc Eggens,Ingeborg Krägeloh-Mann,Linda De Meirleir,Mary King,John M. Graham,Arpad von Moers,Nine V A M Knoers,László Sztriha,Rudolf Korinthenberg,William B. Dobyns,Frank Baas,Bwee Tien Poll-The +22 more
TL;DR: A strong correlation is found between TSEN54 mutations and a dragonfly-like cerebellar pattern on magnetic resonance imaging, in which the Cerebellar hemispheres are flat and severely reduced in size and the vermis is relatively spared.