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 no Mol Genet Metab Rep (2016)

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

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

Clinical utility gene card for: Zellweger syndrome spectrum

Por Rosewich, Hendrik, Waterham, Hans, Poll-The, Bwee Tien, Ohlenbusch, Andreas, Gärtner, Jutta
Publicado no Eur J Hum Genet (2015)

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 no Orphanet J Rare Dis (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 em 2014

L-serine in disease and development.

Por de Koning, Tom J, Snell, Keith, Duran, Marinus, Berger, Ruud, Poll-The, Bwee-Tien, Surtees, Robert
Publicado em 2003

The neurology of rhizomelic chondrodysplasia punctata

Por Bams-Mengerink, Annemieke M, Koelman, Johannes HTM, Waterham, Hans, Barth, Peter G, Poll-The, Bwee Tien
Publicado no Orphanet J Rare Dis (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 em 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 no Cephalalgia (2017)

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 no Orphanet J Rare Dis (2015)

Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up

Por Huffnagel, Irene C., Redeker, Egbert J. W., Reneman, Liesbeth, Vaz, Frédéric M., Ferdinandusse, Sacha, Poll-The, Bwee Tien
Publicado no JIMD Rep (2017)

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 em 2012

TSEN54 mutations cause pontocerebellar hypoplasia type 5

Por Namavar, Yasmin, Chitayat, David, Barth, Peter G, van Ruissen, Fred, de Wissel, Marit B, Poll-The, Bwee Tien, Silver, Rachel, Baas, Frank
Publicado em 2011

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 no J Inherit Metab Dis (2017)

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 em 2012

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

Por van Dijk, Tessa, van Ruissen, Fred, Jaeger, Bregje, Rodenburg, Richard J., Tamminga, Saskia, van Maarle, Merel, Baas, Frank, Wolf, Nicole I., Poll-The, Bwee Tien
Publicado no JIMD Rep (2016)

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 em 2013

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

Por Ofman, Rob, Ruiter, Jos P. N., Feenstra, Marike, Duran, Marinus, Poll-The, Bwee Tien, Zschocke, Johannes, Ensenauer, Regina, Lehnert, Willy, Sass, Jörn Oliver, Sperl, Wolfgang, Wanders, Ronald J. A.
Publicado em 2003

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 no Brain Imaging Behav (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 em 2012