Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation von Stam, A H, Luijckx, G-J, Poll-Thé, B T, Ginjaar, I B, Frants, R R, Haan, J, Ferrari, M D, Terwindt, G M, van den Maagdenberg, A M J M

Volltext

Prognostic factors after a first attack of inflammatory CNS demyelination in children von NEUTEBOOM, R. F, BOON, M, POLL-THE, B. T, DE RIJK-VAN ANDEL, J. F, VERRIPS, A, HINTZEN, R. Q, CATSMAN BERREVOETS, C. E, VLES, J. S, GOOSKENS, R. H, STROINK, H, VERMEULEN, R. J, ROTTEVEEL, J. J, KETELSLEGERS, I. A, PEETERS, E

Volltext

The unfolding clinical spectrum of POLG mutations von Blok, M J, van den Bosch, B J, Jongen, E, Hendrickx, A, de Die-Smulders, C E, Hoogendijk, J E, Brusse, E, de Visser, M, Poll-The, B T, Bierau, J, de Coo, I F, Smeets, H J

Volltext

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes von Bramswig, Nuria 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.

Volltext

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata von BAMS-MENGERINK, A. M, MAJOIE, C. B. L. M, DURAN, M, WANDERS, R. J. A, VAN HOVE, J, SCHEURER, C. D, BARTH, P. G, POLL-THE, B. T

Volltext

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

Volltext

Development and validation of a severity scoring system for Zellweger spectrum disorders von Klouwer, F.C.C., Meester‐Delver, A., Vaz, F.M., Waterham, H.R., Hennekam, R.C.M., Poll‐The, B.T.

Volltext

Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D von Frenkel, J., Houten, S. M., Waterham, H. R., Wanders, R. J. A., Rijkers, G. T., Duran, M., Kuijpers, T. W., van Luijk, W., Poll‐The, B. T., Kuis, W.

Volltext

Sequential MR Imaging Changes in Nonketotic Hyperglycinemia von Mourmans, J, Majoie, C.B.L.M, Barth, P.G, Duran, M, Akkerman, E.M, Poll-The, B.T

Volltext

Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology von Aronica, E, van Kempen, A A M W, van der Heide, M, Poll-The, B T, van Slooten, H J, Troost, D, Rozemuller-Kwakkel, J M

Volltext

Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance von Benninga, M. A, Lilien, M, de Koning, T. J, Duran, M, Versteegh, F. G. A, Goldschmeding, R, Poll-The, B. T

Volltext

Congenital microcephaly and seizures due to 3‐phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids von De Koning, T. J., Duran, M., Maldergem, L. Van, Pineda, M., Dorland, L., Gooskens, R., Jaeken, J., Poll‐The, B. T.

Volltext

Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation von Cleary, M. A., Dorland, L., Koning, T. J., Poll‐The, B. T., Duran, M., Mandell, R., Shih, V. E., Berger, R., Olpin, S. E., Besley, G. T. N.

Volltext

Isolated and contiguous glycerol kinase gene disorders: A review von Sjarif, D. R., Ploos van Amstel, J. K., Duran, M., Beemer, F. A., Poll‐The, B. T.

Volltext

Phenotype of adult Refsum disease due to a defect in peroxin 7 von HORN, M. A, VAN DEN BRINK, D. M, WANDERS, R. J. A, DURAN, M, POLL-THE, B. T, TALLAKSEN, C. M. E, STOKKE, O. H, MOSER, H, SKJELDAL, O. H

Volltext

The metabolism of phytanic acid and pristanic acid in man: A review von Verhoeven, N. M., Wanders, R. J. A., Poll‐The, B. T., Saudubray, J.‐M., Jakobs, C.

Volltext

Normal very‐long‐chain fatty acids in peroxisomal D‐bifunctional protein deficiency: A diagnostic pitfall von Soorani‐Lunsing, R. J., Spronsen, F. J., Stolte‐Dijkstra, I., Wanders, R. J., Ferdinandusse, S., Waterham, H. R., Poll‐The, B. T., Rake, J. P.

Volltext

The eye as a window to inborn errors of metabolism von Poll‐The, B. T., Maillette De Buy Wenniger‐Prick, L. J., Barth, P. G., Duran, M.

Volltext

Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency von Meer, K., Roef, M. J., Klerk, J. B. C., Bakker, H. D., Smit, G. P. A., Poll‐The, B. T.

Volltext

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome von Houten, Sander M., Kuis, Wietse, Duran, Marinus, de Koning, Tom J., van Royen-Kerkhof, Annet, Romeijn, Gerrit J., Frenkel, Joost, Dorland, Lambertus, de Barse, Martina M.J., Huijbers, Wim A.R., Rijkers, Ger T., Waterham, Hans R., Wanders, Ronald J.A., Poll-The, Bwee Tien

Volltext