Publications by authors named "Bwee Tien Poll-The"

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Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.
Femke C C Klouwer, Stefan D Roosendaal, Carla E M Hollak, Mirjam Langeveld, Bwee Tien Poll-The

Orphanet J Rare Dis· September 2024

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Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
Wedad Fallatah, Monica Schouten, Christine Yergeau, Erminia Di Pietro, Marc Engelen, Bwee Tien Poll-The

J Inherit Metab Dis· July 2021

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Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia.
Tessa van Dijk, Peter Barth, Frank Baas, Liesbeth Reneman, Bwee Tien Poll-The

Neuropediatrics· June 2021

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Bwee Tien Poll-The

J Clin Endocrinol Metab· January 2021

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Correction to: Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy.
Wouter J C van Ballegoij, Sander C Kuijpers, Irene C Huffnagel, Henry C Weinstein, Bwee Tien Poll-The

J Neurol· August 2020

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Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome.
Eva M M Hoytema van Konijnenburg, Ilse K Luirink, Sebastian E E Schagen, Marc Engelen, Kevin Berendse, Bwee Tien Poll-The

Mol Genet Metab Rep· June 2020

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Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy.
Wouter J C van Ballegoij, Sander C Kuijpers, Irene C Huffnagel, Henry C Weinstein, Bwee Tien Poll-The

J Neurol· March 2020

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Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.
Angela L Duker, Timothy Niiler, Dagmar Kinderman, Monica Schouten, Bwee Tien Poll-The

Am J Med Genet A· March 2020

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Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder.
Kevin Berendse, Maxim Boek, Marion Gijbels, Nicole N Van der Wel, Femke C Klouwer, Bwee Tien Poll-The

Biochim Biophys Acta Mol Basis Dis· October 2019

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Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder.
Kevin Berendse, Bart G P Koot, Femke C C Klouwer, Marc Engelen, Frank Roels, Bwee Tien Poll-The

J Inherit Metab Dis· September 2019

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Correction to: Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injury.
Marsh Königs, Petra Jw Pouwels, L W Ernest van Heurn, Roel Bakx, R Jeroen Vermeulen, Bwee Tien Poll-The

Brain Imaging Behav· August 2019

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The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.
Femke C C Klouwer, Bart G P Koot, Kevin Berendse, Elles M Kemper, Sacha Ferdinandusse, Bwee Tien Poll-The

J Inherit Metab Dis· March 2019

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Disease progression in women with X-linked adrenoleukodystrophy is slow.
Irene C Huffnagel, Marcel G W Dijkgraaf, Georges E Janssens, Michel van Weeghel, Björn M van Geel, Bwee Tien Poll-The

Orphanet J Rare Dis· February 2019

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Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
Tessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, Mariëlle Alders, Inge B Mathijssen, Bwee Tien Poll-The

Eur J Hum Genet· December 2018

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A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.
Tessa van Dijk, Jan-Dirk Vermeij, Silvana van Koningsbruggen, Phillis Lakeman, Frank Baas, Bwee Tien Poll-The

J Inherit Metab Dis· September 2018

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What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
Tessa van Dijk, Frank Baas, Peter G Barth, Bwee Tien Poll-The

Orphanet J Rare Dis· June 2018

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Brain atrophy following hemiplegic migraine attacks.
Nadine Pelzer, Evelien S Hoogeveen, Michel D Ferrari, Bwee Tien Poll-The, Mark C Kruit

Cephalalgia· May 2018

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Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Mathilde Renaud, Maria-Céu Moreira, Bondo Ben Monga, Diana Rodriguez, Rabab Debs, Bwee Tien Poll-The

JAMA Neurol· April 2018

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Coagulopathy in Zellweger spectrum disorders: a role for vitamin K.
Sara Zeynelabidin, Femke C C Klouwer, Joost C M Meijers, Monique H Suijker, Marc Engelen, Bwee Tien Poll-The

J Inherit Metab Dis· March 2018

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Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution.
Femke C C Klouwer, Nancy E Braverman, Henkjan J Verkade, Kevin Berendse, Hans R Waterham, Bwee Tien Poll-The

J Pediatr Gastroenterol Nutr· February 2018

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A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
Cas Simons, David Dyment, Stephen J Bent, Joanna Crawford, Marc D'Hooghe, Bwee-Tien Poll-The

Brain· December 2017

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Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.
Femke C C Klouwer, Sacha Ferdinandusse, Henk van Lenthe, Wim Kulik, Ronald J A Wanders, Bwee Tien Poll-The

J Inherit Metab Dis· November 2017

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The structural connectome of children with traumatic brain injury.
Marsh Königs, L W Ernest van Heurn, Roel Bakx, R Jeroen Vermeulen, J Carel Goslings, Bwee Tien Poll-The

Hum Brain Mapp· July 2017

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Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.
Irene C Huffnagel, Egbert J W Redeker, Liesbeth Reneman, Frédéric M Vaz, Sacha Ferdinandusse, Bwee Tien Poll-The

JIMD Rep· July 2017

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Clinical and Laboratory Diagnosis of Peroxisomal Disorders.
Ronald J A Wanders, Femke C C Klouwer, Sacha Ferdinandusse, Hans R Waterham, Bwee Tien Poll-Thé

Methods Mol Biol· May 2017

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