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

由 Klouwer, Femke C.C., Abdulrahman, Hanna, Poll-The, Bwee Tien
發表在 Mol Genet Metab Rep (2016)

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

由 Namavar, Yasmin, Barth, Peter G, Poll-The, Bwee Tien, Baas, Frank
出版 2011

Clinical utility gene card for: Zellweger syndrome spectrum

由 Rosewich, Hendrik, Waterham, Hans, Poll-The, Bwee Tien, Ohlenbusch, Andreas, Gärtner, Jutta
發表在 Eur J Hum Genet (2015)

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

由 van Dijk, Tessa, Baas, Frank, Barth, Peter G., Poll-The, Bwee Tien
發表在 Orphanet J Rare Dis (2018)

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

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

L-serine in disease and development.

由 de Koning, Tom J, Snell, Keith, Duran, Marinus, Berger, Ruud, Poll-The, Bwee-Tien, Surtees, Robert
出版 2003

The neurology of rhizomelic chondrodysplasia punctata

由 Bams-Mengerink, Annemieke M, Koelman, Johannes HTM, Waterham, Hans, Barth, Peter G, Poll-The, Bwee Tien
發表在 Orphanet J Rare Dis (2013)

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

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

Brain atrophy following hemiplegic migraine attacks

由 Pelzer, Nadine, Hoogeveen, Evelien S, Ferrari, Michel D, Poll-The, Bwee Tien, Kruit, Mark C, Terwindt, Gisela M
發表在 Cephalalgia (2017)

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

由 van Dijk, Tessa, Vermeij, Jan-Dirk, van Koningsbruggen, Silvana, Lakeman, Phillis, Baas, Frank, Poll-The, Bwee Tien
發表在 J Inherit Metab Dis (2018)

Neonatal Citrullinemia: Comparison of Conventional MR, Diffusion-Weighted, and Diffusion Tensor Findings

由 Majoie, Charles B. L. M., Mourmans, Jeroen M., Akkerman, Erik M., Duran, Marinus, Poll-The, Bwee Tien
發表在 AJNR Am J Neuroradiol (2004)

Zellweger spectrum disorders: clinical overview and management approach

由 Klouwer, Femke C. C., Berendse, Kevin, Ferdinandusse, Sacha, Wanders, Ronald J. A., Engelen, Marc, Poll-The, Bwee Tien
發表在 Orphanet J Rare Dis (2015)

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

由 Huffnagel, Irene C., Redeker, Egbert J. W., Reneman, Liesbeth, Vaz, Frédéric M., Ferdinandusse, Sacha, Poll-The, Bwee Tien
發表在 JIMD Rep (2017)

Mitochondrial Encephalomyopathy: Comparison of Conventional MR Imaging with Diffusion-Weighted and Diffusion Tensor Imaging: Case Report

由 Majoie, Charles B., Akkerman, Erik M., Blank, Christian, Barth, Peter G., Poll-The, Bwee Tien, den Heeten, G.J.
發表在 AJNR Am J Neuroradiol (2002)

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

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

TSEN54 mutations cause pontocerebellar hypoplasia type 5

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

Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

由 Zeynelabidin, Sara, Klouwer, Femke C. C., Meijers, Joost C. M., Suijker, Monique H., Engelen, Marc, Poll-The, Bwee Tien, van Ommen, C. Heleen
發表在 J Inherit Metab Dis (2017)

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

由 Hoytema van Konijnenburg, Eva M.M., Luirink, Ilse K., Schagen, Sebastian E.E., Engelen, Marc, Berendse, Kevin, Poll-The, Bwee Tien, Chegary, Malika
發表在 Mol Genet Metab Rep (2020)

Bezafibrate for X-Linked Adrenoleukodystrophy

由 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
出版 2012

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

由 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
發表在 JIMD Rep (2016)