Bwee Poll-The

Research output

Research output per year 1985 1996 1998 2000 2003 2004 2006 2012 2013 2016 2017 2018 2021

• 220 Article
• 23 Comment/Letter to the editor
• 15 Review article
• 13 Chapter
• 4 More
  • 3 Editorial
  • 1 Erratum/Corrigendum

Research output per year

Research output per year

Search results

• 2021

  Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata

  Fallatah, W., Schouten, M., Yergeau, C., di Pietro, E., Engelen, M., Waterham, H. R., Poll-The, B. T. & Braverman, N., Jul 2021, In: Journal of Inherited Metabolic Disease. 44, 4, p. 1021-1038 18 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  18 Citations (Scopus)

• Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

  Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., & 99 othersSébire, G., Lourenço, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Strømme, P., de Grauw, T., Gieruszczak-Bialek, D., Krägeloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., McClintock, W., McEntagart, M., McKenzie, F., Melançon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Özkınay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sønderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., van de Warrenburg, B. P., Vázquez-López, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., van der Knaap, M. S., Vanderver, A., Martos-Moreno, G., Polychronakos, C., Wolf, N. I. & Bernard, G., 23 Jan 2021, In: The Journal of clinical endocrinology and metabolism. 106, 2, p. e660-e674

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  24 Citations (Scopus)

• Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia

  van Dijk, T., Barth, P., Baas, F., Reneman, L. & Poll-The, B. T., 1 Jun 2021, In: Neuropediatrics. 52, 3, p. 163-169 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  6 Citations (Scopus)
• 2020

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

  Hoytema van Konijnenburg, E. M. M., Luirink, I. K., Schagen, S. E. E., Engelen, M., Berendse, K., Poll-The, B. T. & Chegary, M., Jun 2020, In: Molecular Genetics and Metabolism Reports. 23, 100590.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  3 Citations (Scopus)

• Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy

  van Ballegoij, W. J. C., Kuijpers, S. C., Huffnagel, I. C., Weinstein, H. C., Poll-The, B. T., Engelen, M., Bennebroek, C. A. M. & Verbraak, F. D., 1 Mar 2020, In: Journal of neurology. 267, 3, p. 679–687 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  5 Citations (Scopus)
• 2019

  Disease progression in women with X-linked adrenoleukodystrophy is slow

  Huffnagel, I. C., Dijkgraaf, M. G. W., Janssens, G. E., van Weeghel, M., van Geel, B. M., Poll-The, B. T., Kemp, S. & Engelen, M., 7 Feb 2019, In: Orphanet Journal of Rare Diseases. 14, 1, p. 30 30.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  56 Citations (Scopus)

• Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder

  Berendse, K., Koot, B. G. P., Klouwer, F. C. C., Engelen, M., Roels, F., Lacle, M. M., Nikkels, P. G. J., Verheij, J. & Poll-The, B. T., 1 Sept 2019, In: Journal of Inherited Metabolic Disease. 42, 5, p. 955-965

  Research output: Contribution to journal › Article › Academic › peer-review
  6 Citations (Scopus)

• Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder

  Berendse, K., Boek, M., Gijbels, M., van der Wel, N. N., Klouwer, F. C., van den Bergh-Weerman, M. A., Shinde, A. B., Ofman, R., Poll-The, B. T., Houten, S. M., Baes, M., Wanders, R. J. A. & Waterham, H. R., 1 Oct 2019, In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1865, 10, p. 2774-2787

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  12 Citations (Scopus)

• Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injury (vol 12, pg 29, 2018)

  Konigs, M., Pouwels, P. J. W., van Heurn, L. W. E., Bakx, R., Vermeulen, R. J., Goslings, J. C., Poll-The, B. T., van der Wees, M., Catsman-Berrevoets, C. E. & Oosterlaan, J., Aug 2019, In: Brain imaging and behavior. 13, 4, p. 1183-1183

  Research output: Contribution to journal › Article › Academic › peer-review

• The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy

  Klouwer, F. C. C., Koot, B. G. P., Berendse, K., Kemper, E. M., Ferdinandusse, S., Koelfat, K. V. K., Lenicek, M., Vaz, F. M., Engelen, M., Jansen, P. L. M., Wanders, R. J. A., Waterham, H. R., Schaap, F. G. & Poll-The, B. T., 1 Mar 2019, In: Journal of Inherited Metabolic Disease. 42, 2, p. 303-312

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  17 Citations (Scopus)
• 2018

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

  van Dijk, T., Vermeij, J-D., van Koningsbruggen, S., Lakeman, P., Baas, F. & Poll-The, B. T., 2018, In: Journal of Inherited Metabolic Disease. 41, 5, p. 897-898

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  11 Citations (Scopus)

• Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

  van Dijk, T., Ferdinandusse, S., Ruiter, J. P. N., Alders, M., Mathijssen, I. B., Parboosingh, J. S., Innes, A. M., Meijers-Heijboer, H., Poll-The, B. T., Bernier, F. P., Wanders, R. J. A., Lamont, R. E. & Baas, F., 1 Dec 2018, In: European journal of human genetics. 26, 12, p. 1752-1758 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  25 Citations (Scopus)

• Brain atrophy following hemiplegic migraine attacks

  Pelzer, N., Hoogeveen, E. S., Ferrari, M. D., Poll-The, B. T., Kruit, M. C. & Terwindt, G. M., 2018, In: Cephalalgia. 38, 6, p. 1199-1202

  Research output: Contribution to journal › Article › Academic › peer-review
  18 Citations (Scopus)

• Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

  Renaud, M., Moreira, M-C., Ben Monga, B., Rodriguez, D., Debs, R., Charles, P., Chaouch, M., Ferrat, F., Laurencin, C., Vercueil, L., Mallaret, M., M'Zahem, A., Pacha, L. A., Tazir, M., Tilikete, C., Ollagnon, E., Ochsner, F., Kuntzer, T., Jung, H. H., Beis, J-M., & 23 othersNetter, J-C., Djamshidian, A., Bower, M., Bottani, A., Walsh, R., Murphy, S., Reiley, T., Bieth, É., Roelens, F., Poll-The, B. T., Lourenço, C. M., Jardim, L. B., Straussberg, R., Landrieu, P., Roze, E., Thobois, S., Pouget, J., Guissart, C., Goizet, C., Dürr, A., Tranchant, C., Koenig, M. & Anheim, M., 2018, In: JAMA Neurology. 75, 4, p. 495-502

  Research output: Contribution to journal › Article › Academic › peer-review
  29 Citations (Scopus)

• Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

  Zeynelabidin, S., Klouwer, F. C. C., Meijers, J. C. M., Suijker, M. H., Engelen, M., Poll-The, B. T. & van Ommen, C. H., 2018, In: Journal of Inherited Metabolic Disease. 41, 2, p. 249-255

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  6 Citations (Scopus)

• Development and validation of a severity scoring system for Zellweger spectrum disorders

  Klouwer, F. C. C., Meester-Delver, A., Vaz, F. M., Waterham, H. R., Hennekam, R. C. M. & Poll-The, B. T., 2018, In: Clinical genetics. 93, 3, p. 613-621

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  12 Citations (Scopus)

• Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study

  de Mol, C. L., Wong, Y. Y. M., van Pelt, E. D., Ketelslegers, I. A., Bakker, D. P., Boon, M., Braun, K. P. J., van Dijk, K. G. J., Eikelenboom, M. J., Engelen, M., Geleijns, K., Haaxma, C. A., Niermeijer, J. M. F., Niks, E. H., Peeters, E. A. J., Peeters-Scholte, C. M. P. C. D., Poll-The, B. T., Portier, R. P., de Rijk-van Andel, J. F., Samijn, J. P. A., & 11 othersSchippers, H. M., Snoeck, I. N., Stroink, H., Vermeulen, R. J., Verrips, A., Visscher, F., Vles, J. S. H., Willemsen, M. A. A. P., Catsman-Berrevoets, C. E., Hintzen, R. Q. & Neuteboom, R. F., 2018, In: Journal of neurology. 265, 6, p. 1310-1319

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  42 Citations (Scopus)

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

  Huffnagel, I. C., Redeker, E. J. W., Reneman, L., Vaz, F. M., Ferdinandusse, S. & Poll-The, B. T., 2018, In: JIMD reports. 39, p. 83-87

  Research output: Contribution to journal › Article › Academic › peer-review
  24 Citations (Scopus)

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

  Königs, M., Pouwels, P. JW., Ernest van Heurn, LW., Bakx, R., Jeroen Vermeulen, R., Carel Goslings, J., Poll-The, B. T., van der Wees, M., Catsman-Berrevoets, C. E. & Oosterlaan, J., 1 Feb 2018, In: Brain Imaging and Behavior. 12, 1, p. 1-15 15 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  38 Citations (Scopus)
• 2017

  A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's

  van Dijk, T., Barth, P., Reneman, L., Appelhof, B., Baas, F. & Poll-The, B. T., 2017, In: American Journal of Medical Genetics. Part A. 173A, 1, p. 207-212

  Research output: Contribution to journal › Article › Academic › peer-review
  29 Citations (Scopus)

• A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

  Simons, C., Dyment, D., Bent, S. J., Crawford, J., D'Hooghe, M., Kohlschuetter, A., Venkateswaran, S., Helman, G., Poll-The, B-T., Makowski, C. C., Ito, Y., Kernohan, K., Hartley, T., Waisfisz, Q., Taft, R. J., van der Knaap, M. S., Wolf, N. I. & Kohlschütter, A., Dec 2017, In: Brain. 140, 12, p. 3105-3111

  Research output: Contribution to journal › Article › Academic › peer-review
  56 Citations (Scopus)

• Clinical and Laboratory Diagnosis of Peroxisomal Disorders

  Wanders, R. J. A., Klouwer, F. C. C., Ferdinandusse, S., Waterham, H. R. & Poll-Thé, B. T., 2017, In: Methods in molecular biology (Clifton, N.J.). 1595, p. 329-342

  Research output: Contribution to journal › Article › Academic › peer-review
  24 Citations (Scopus)

• Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders

  Klouwer, F. C. C., Ferdinandusse, S., van Lenthe, H., Kulik, W., Wanders, R. J. A., Poll-The, B. T., Waterham, H. R. & Vaz, F. M., 2017, In: Journal of Inherited Metabolic Disease. 40, 6, p. 875-881

  Research output: Contribution to journal › Article › Academic › peer-review
  36 Citations (Scopus)

• Non-motor symptoms and quality of life in dopa-responsive dystonia patients

  Timmers, E. R., Kuiper, A., Smit, M., Bartels, A. L., Kamphuis, D. J., Wolf, N. I., Poll-The, B. T., Wassenberg, T., Peeters, E. A. J., de Koning, T. J. & Tijssen, M. A. J., Dec 2017, In: Parkinsonism and Related Disorders. 45, p. 57-62

  Research output: Contribution to journal › Article › Academic › peer-review
  18 Citations (Scopus)

• Pediatric traumatic brain injury affects multisensory integration

  Königs, M., Weeda, W. D., van Heurn, L. W. E., Vermeulen, R. J., Goslings, J. C., Luitse, J. S. K., Poll-The, B. T., Beelen, A., van der Wees, M., Kemps, R. J. J. K., Catsman-Berrevoets, C. E. & Oosterlaan, J., 1 Feb 2017, In: Neuropsychology. 31, 2, p. 137-148 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  11 Citations (Scopus)

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

  van Dijk, T., van Ruissen, F., Jaeger, B., Rodenburg, R. J., Tamminga, S., van Maarle, M., Baas, F., Wolf, N. I. & Poll-The, B. T., 2017, In: JIMD reports. 33, p. 87-92

  Research output: Contribution to journal › Article › Academic › peer-review
  14 Citations (Scopus)

• "Role of peroxisomes in human lipid metabolism and its importance for neurological development"

  Wanders, R. J. A. & Poll-The, B. T., 2017, In: Neuroscience letters. 637, p. 11-17

  Research output: Contribution to journal › Article › Academic › peer-review
  30 Citations (Scopus)

• The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency

  Stepien, K. M., Wierzbicki, A. S., Poll-The, B. T., Waterham, H. R. & Hendriksz, C. J., 2017, In: JIMD reports. 33, p. 49-53

  Research output: Contribution to journal › Article › Academic › peer-review
  2 Citations (Scopus)

• The structural connectome of children with traumatic brain injury

  Königs, M., van Heurn, L. W. E., Bakx, R., Vermeulen, R. J., Goslings, J. C., Poll-The, B. T., van der Wees, M., Catsman-Berrevoets, C. E., Oosterlaan, J. & Pouwels, P. J. W., 2017, In: Human brain mapping. 38, 7, p. 3603-3614

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  26 Citations (Scopus)
• 2016

  Cholic acid therapy in Zellweger spectrum disorders

  Berendse, K., Klouwer, F. C. C., Koot, B. G. P., Kemper, E. M., Ferdinandusse, S., Koelfat, K. V. K., Lenicek, M., Schaap, F. G., Waterham, H. R., Vaz, F. M., Engelen, M., Jansen, P. L. M., Wanders, R. J. A. & Poll-The, B. T., 2016, In: Journal of Inherited Metabolic Disease. 39, 6, p. 859-868

  Research output: Contribution to journal › Article › Academic › peer-review
  36 Citations (Scopus)

• Diffuse hypomyelination is not obligate for POLR3-related disorders

  La Piana, R., Cayami, F. K., Tran, L. T., Guerrero, K., van Spaendonk, R., Õunap, K., Pajusalu, S., Haack, T., Wassmer, E., Timmann, D., Mierzewska, H., Poll-Thé, B. T., Patel, C., Cox, H., Atik, T., Onay, H., Ozkınay, F., Vanderver, A., van der Knaap, M. S., Wolf, N. I., & 1 othersBernard, G., 26 Apr 2016, In: Neurology. 86, 17, p. 1622-1626

  Research output: Contribution to journal › Article › Academic › peer-review
  56 Citations (Scopus)

• Feedback learning and behavior problems after pediatric traumatic brain injury

  Konigs, M., van Heurn, L. W. E., Vermeulen, R. J., Goslings, J. C., Luitse, J. S. K., Poll-The, B. T., Beelen, A., van der Wees, M., Kemps, R. J. J. K., Catsman-Berrevoets, C. E., Luman, M. & Oosterlaan, J., May 2016, In: Psychological Medicine. 46, 7, p. 1473-1484

  Research output: Contribution to journal › Article › Academic › peer-review
  4 Citations (Scopus)

• Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

  Jaeger, B., Abeling, N. G., Salomons, G. S., Struys, E. A., Simas-Mendes, M., Geukers, V. G. & Poll-The, B. T., 1 Mar 2016, In: Molecular Genetics and Metabolism Reports. 6, p. 60-63 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  28 Citations (Scopus)

• Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

  Berendse, K., Engelen, M., Ferdinandusse, S., Majoie, C. B. L. M., Waterham, H. R., Vaz, F. M., Koelman, J. H. T. M., Barth, P. G., Wanders, R. J. A. & Poll-The, B. T., 2016, In: Journal of Inherited Metabolic Disease. 39, 1, p. 93-106

  Research output: Contribution to journal › Article › Academic › peer-review
  66 Citations (Scopus)
• 2015

  Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study

  van Geel, B. M., Poll-The, B. T., Verrips, A., Boelens, J-J., Kemp, S. & Engelen, M., 2015, In: Journal of Inherited Metabolic Disease. 38, 2, p. 359-361

  Research output: Contribution to journal › Article › Academic › peer-review
  52 Citations (Scopus)

• Impaired visual integration in children with traumatic brain injury: an observational study

  Konigs, M., Weeda, W. D., van Heurn, L. W. E., Vermeulen, R. J., Goslings, J. C., Luitse, J. S. K., Poll-The, B. T., Beelen, A., Wees, M., Kemps, R. J. J. K., Catsman-Berrevoets, C. E. & Oosterlaan, J., 2015, In: PLOS ONE. 10, 12, p. e0144395 e0144395.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  5 Citations (Scopus)

• Pediatric Traumatic Brain Injury and Attention Deficit

  Konigs, M., Heij, H. A., van der Sluijs, J. A., Vermeulen, R. J., Goslings, J. C., Luitse, J. S. K., Beelen, A., Wees, M., Kemps, R. J. J. K., Catsman-Berrevoets, C. E., Oosterlaan, J. & Poll-Thé, B. T., 2015, In: Pediatrics. 136, 3, p. 534-541

  Research output: Contribution to journal › Article › Academic › peer-review
  38 Citations (Scopus)

• 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes

  Bramswig, N. C., Ockeloen, C. W., Czeschik, J. C., van Essen, A. J., Pfundt, R., Smeitink, J., Poll-The, B. T., Engels, H., Strom, T. M., Wieczorek, D., Kleefstra, T. & Lüdecke, H-J., 2015, In: Human genetics. 134, 10, p. 1089-1097

  Research output: Contribution to journal › Article › Academic › peer-review
  24 Citations (Scopus)

• Strokelike episodes and cutis marmorata telangiectatica congenita

  van Schaik, S. M., Reneman, L., Engelen, M., Roos, Y. B. W. E. M. & Poll-The, B. T., 2015, In: Journal of child neurology. 30, 1, p. 129-132

  Research output: Contribution to journal › Article › Academic › peer-review
  2 Citations (Scopus)
• 2014

  Ataxia rating scales are age-dependent in healthy children

  AUTHOR GROUP, 2014, In: Developmental Medicine and Child Neurology. 56, 6, p. 556-563

  Research output: Contribution to journal › Article › Academic › peer-review
  56 Citations (Scopus)

• Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

  AUTHOR GROUP & Stromme, P., 2014, In: Neurology. 83, 21, p. 1898-1905

  Research output: Contribution to journal › Article › Academic › peer-review
  148 Citations (Scopus)

• Ectopic peripontine arcuate fibres, a novel finding in pontine tegmental cap dysplasia

  Caan, M. W. A., Barth, P. G., Niermeijer, J-M., Majoie, C. B. & Poll-The, B. T., 2014, In: European journal of paediatric neurology : EJPN. 18, 3, p. 434-438

  Research output: Contribution to journal › Article › Academic › peer-review
  21 Citations (Scopus)

• EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

  Eggens, V. R., Barth, P. G., Niermeijer, J-M. F., Berg, J. N., Darin, N., Dixit, A., Fluss, J., Foulds, N., Fowler, D., Hortobágyi, T., Jacques, T., King, M. D., Makrythanasis, P., Máté, A., Nicoll, J. A. R., O'Rourke, D., Price, S., Williams, A. N., Wilson, L., Suri, M., & 10 othersSztriha, L., Dijns-de Wissel, M. B., van Meegen, M. T., van Ruissen, F., Aronica, E., Troost, D., Majoie, C. B., Marquering, H. A., Poll-Thé, B. T. & Baas, F., 2014, In: Orphanet Journal of Rare Diseases. 9, 1, p. 23

  Research output: Contribution to journal › Article › Academic › peer-review
  67 Citations (Scopus)

• Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures

  de Roo, M. G. A., Abeling, N. G. G. M., Majoie, C. B., Bosch, A. M., Koelman, J. H. T. M., Cobben, J. M., Duran, M. & Poll-The, B. T., 2014, In: Molecular Genetics and Metabolism. 111, 3, p. 404-407

  Research output: Contribution to journal › Article › Academic › peer-review
  24 Citations (Scopus)

• X-linked adrenoleukodystrophy in women: a cross-sectional cohort study

  Engelen, M., Barbier, M., Dijkstra, I. M. E., Schür, R., de Bie, R. M. A., Verhamme, C., Dijkgraaf, M. G. W., Aubourg, P. A., Wanders, R. J. A., van Geel, B. M., de Visser, M., Poll-The, B. T. & Kemp, S., 2014, In: Brain. 137, Part 3, p. 693-706

  Research output: Contribution to journal › Article › Academic › peer-review
  165 Citations (Scopus)
• 2013

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

  Berendse, K., Ebberink, M. S., Ijlst, L., Poll-The, B. T., Wanders, R. J. A. & Waterham, H. R., 2013, In: Orphanet Journal of Rare Diseases. 8, 1, p. 138

  Research output: Contribution to journal › Article › Academic › peer-review
  31 Citations (Scopus)

• Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands

  Stalpers, X. L., Verrips, A., Poll-The, B. T., Cobben, J-M., Snoeck, I. N., de Coo, I. F. M., Brooks, A., Bulk, S., Gooskens, R., Fock, A., Verschuuren-Bemelmans, C., Sinke, R. J., de Visser, M. & Lemmink, H. H., 2013, In: Neuromuscular disorders. 23, 6, p. 461-468

  Research output: Contribution to journal › Article › Academic › peer-review
  17 Citations (Scopus)

• Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases

  Valayannopoulos, V. & Poll-The, B. T., 2013, In: Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn. 113, p. 1553-1562

  Research output: Contribution to journal › Article › Academic › peer-review
  5 Citations (Scopus)

• Genetic basis of hyperlysinemia

  Houten, S. M., te Brinke, H., Denis, S., Ruiter, J. P., Knegt, A. C., de Klerk, J. B., Augoustides-Savvopoulou, P., Häberle, J., Baumgartner, M. R., Coşkun, T., Zschocke, J., Sass, J. O., Poll-The, B. T., Wanders, R. J. & Duran, M., 2013, In: Orphanet Journal of Rare Diseases. 8, 1, p. 57

  Research output: Contribution to journal › Article › Academic › peer-review
  35 Citations (Scopus)

• Neurologic abnormalities in HIV-1 infected children in the era of combination antiretroviral therapy

  van Arnhem, L. A., Bunders, M. J., Scherpbier, H. J., Majoie, C. B. L. M., Reneman, L., Frinking, O., Poll-The, B. T., Kuijpers, T. W. & Pajkrt, D., 2013, In: PLOS ONE. 8, 5, p. e64398

  Research output: Contribution to journal › Article › Academic › peer-review
  28 Citations (Scopus)