Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders

por Klouwer, Femke C.C., Abdulrahman, Hanna, Poll-The, Bwee Tien
Publicado 2016

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

por Namavar, Yasmin, Barth, Peter G, Poll-The, Bwee Tien, Baas, Frank
Publicado 2011

What’s new in pontocerebellar hypoplasia? An update on genes and subtypes

por van Dijk, Tessa, Baas, Frank, Barth, Peter G., Poll-The, Bwee Tien
Publicado 2018

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

por Berendse, Kevin, Engelen, Marc, Linthorst, Gabor E, van Trotsenburg, AS Paul, Poll–The, Bwee Tien
Publicado 2014

The neurology of rhizomelic chondrodysplasia punctata

por Bams-Mengerink, Annemieke M, Koelman, Johannes HTM, Waterham, Hans, Barth, Peter G, Poll-The, Bwee Tien
Publicado 2013

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder

por Berendse, Kevin, Ebberink, Merel S, IJlst, Lodewijk, Poll-The, Bwee Tien, Wanders, Ronald J A, Waterham, Hans R
Publicado 2013

Brain atrophy following hemiplegic migraine attacks

por Pelzer, Nadine, Hoogeveen, Evelien S, Ferrari, Michel D, Poll-The, Bwee Tien, Kruit, Mark C, Terwindt, Gisela M
Publicado 2017

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia

por van Dijk, Tessa, Vermeij, Jan-Dirk, van Koningsbruggen, Silvana, Lakeman, Phillis, Baas, Frank, Poll-The, Bwee Tien
Publicado 2018

Zellweger spectrum disorders: clinical overview and management approach

por Klouwer, Femke C. C., Berendse, Kevin, Ferdinandusse, Sacha, Wanders, Ronald J. A., Engelen, Marc, Poll-The, Bwee Tien
Publicado 2015

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

por Engelen, Marc, Kemp, Stephan, de Visser, Marianne, van Geel, Björn M, Wanders, Ronald JA, Aubourg, Patrick, Poll-The, Bwee Tien
Publicado 2012

Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

por Zeynelabidin, Sara, Klouwer, Femke C. C., Meijers, Joost C. M., Suijker, Monique H., Engelen, Marc, Poll-The, Bwee Tien, van Ommen, C. Heleen
Publicado 2017

Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome

por Hoytema van Konijnenburg, Eva M.M., Luirink, Ilse K., Schagen, Sebastian E.E., Engelen, Marc, Berendse, Kevin, Poll-The, Bwee Tien, Chegary, Malika
Publicado 2020

Bezafibrate for X-Linked Adrenoleukodystrophy

por Engelen, Marc, Tran, Luc, Ofman, Rob, Brennecke, Josephine, Moser, Ann B., Dijkstra, Inge M. E., Wanders, Ronald J. A., Poll-The, Bwee Tien, Kemp, Stephan
Publicado 2012

Disease progression in women with X-linked adrenoleukodystrophy is slow

por Huffnagel, Irene C., Dijkgraaf, Marcel G. W., Janssens, Georges E., van Weeghel, Michel, van Geel, Björn M., Poll-The, Bwee Tien, Kemp, Stephan, Engelen, Marc
Publicado 2019

Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy

por van Ballegoij, Wouter J. C., Kuijpers, Sander C., Huffnagel, Irene C., Weinstein, Henry C., Poll-The, Bwee Tien, Engelen, Marc, Bennebroek, Carlien A. M., Verbraak, Frank D.
Publicado 2019

Correction to: Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy

por van Ballegoij, Wouter J. C., Kuijpers, Sander C., Huffnagel, Irene C., Weinstein, Henry C., Poll‑The, Bwee Tien, Engelen, Marc, Bennebroek, Carlien A. M., Verbraak, Frank D.
Publicado 2020

Neurologic Abnormalities in HIV-1 Infected Children in the Era of Combination Antiretroviral Therapy

por van Arnhem, Lotus A., Bunders, Madeleine J., Scherpbier, Henriette J., Majoie, Charles B. L. M., Reneman, Liesbeth, Frinking, Olivier, Poll-The, Bwee Tien, Kuijpers, Taco W., Pajkrt, Dasja
Publicado 2013

Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injury

por Königs, Marsh, Pouwels, Petra JW, Ernest van Heurn, LW, Bakx, Roel, Jeroen Vermeulen, R, Carel Goslings, J, Poll-The, Bwee Tien, van der Wees, Marleen, Catsman-Berrevoets, Coriene E, Oosterlaan, Jaap
Publicado 2017

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation

por Engelen, Marc, Schackmann, Martin J. A., Ofman, Rob, Sanders, Robert-Jan, Dijkstra, Inge M. E., Houten, Sander M., Fourcade, Stéphane, Pujol, Aurora, Poll-The, Bwee Tien, Wanders, Ronald J. A., Kemp, Stephan
Publicado 2012

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

por Berendse, Kevin, Engelen, Marc, Ferdinandusse, Sacha, Majoie, Charles B. L. M., Waterham, Hans R., Vaz, Frédéric M., Koelman, Johannes H. T. M., Barth, Peter G., Wanders, Ronald J. A., Poll-The, Bwee Tien
Publicado 2015