Bwee Poll - The

Prof. PhD

Full Professor, ANS - Cellular & Molecular Mechanisms Full Professor, ANS - Cellular & Molecular Mechanisms Affiliatie UvA Full Professor, Amsterdam Gastroenterology Endocrinology Metabolism Full Professor, Pediatric Neurology Medical Specialist, Pediatric Neurology

Specialization

Pediatric Neurology

Focus of research

Genetic and congenital disorders of the nervous system.
Neurometabolic, peroxisomal disorders.

Key publications
Latest publications

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
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
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
All publications

Bwee Poll - The

Specialization

Focus of research

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

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

The neurology of rhizomelic chondrodysplasia punctata

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

Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia

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

Bwee Poll - The

Specialization

Focus of research

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

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

The neurology of rhizomelic chondrodysplasia punctata

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

Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia

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

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