Coexistence of Gaucher disease type 1 and Joubert syndrome

Por BOLTSHAUSER, E., MARIA, B., VAN ROYEN-KERKHOF, A, POLL-THE, B, BEEMER, F
Publicado em 1999

Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.

Por Fournier, B, Saudubray, J M, Benichou, B, Lyonnet, S, Munnich, A, Clevers, H, Poll-The, B T
Publicado em 1994

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation()

Por Jaeger, B., Abeling, N.G., Salomons, G.S., Struys, E.A., Simas-Mendes, M., Geukers, V.G., Poll-The, B.T.
Publicado no Mol Genet Metab Rep (2016)

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

Por Sjarif, D R, Sinke, R J, Duran, M, Beemer, F A, Kleijer, W J, Ploos van Amstel, J K, Poll-The, B T
Publicado em 1998

Coexistence of Gaucher disease type 1 and Joubert syndrome.

Por van Royen-Kerkhof, A, Poll-The, B T, Kleijer, W J, van Diggelen, O P, Aerts, J M, Hopwood, J J, Beemer, F A
Publicado em 1998

X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.

Por van den Berg, I E, van Beurden, E A, Malingré, H E, van Amstel, H K, Poll-The, B T, Smeitink, J A, Lamers, W H, Berger, R
Publicado em 1995

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Por Waterham, H R, Wijburg, F A, Hennekam, R C, Vreken, P, Poll-The, B T, Dorland, L, Duran, M, Jira, P E, Smeitink, J A, Wevers, R A, Wanders, R J
Publicado em 1998

Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study

Por Ketelslegers, I. A., Catsman-Berrevoets, C. E., Neuteboom, R. F., Boon, M., van Dijk, K. G. J., Eikelenboom, M. J., Gooskens, R. H. J. M., Niks, E. H., Overweg-Plandsoen, W. C. G., Peeters, E. A. J., Peeters-Scholte, C. M. P. C. D., Poll-The, B. T., de Rijk-van Andel, J. F., Samijn, J. P. A., Snoeck, I. N., Stroink, H., Vermeulen, R. J., Verrips, A., Vles, J. S. H., Willemsen, M. A. A. P., Rodrigues Pereira, R., Hintzen, R. Q.
Publicado em 2012

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

Por 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., Schippers, 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.
Publicado no J Neurol (2018)