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Poll‐The, B. T.
183
results:
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Online (183)
Mediatypes
Articles (Online) (140)
OpenAccess-fulltext (43)
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1
Development and validation of a severity scoring system for..:
Klouwer, F.C.C.
;
Meester‐Delver, A.
;
Vaz, F.M.
...
Clinical Genetics. 93 (2017) 3 - p. 613-621 , 2017
Link:
https://doi.org/10.1111/..
?
2
OP03.06: Prenatally diagnosed ventriculomegaly: Association..:
Dam, L.
;
Cohen‐Overbeek, T. E.
;
Poll‐The, B. T.
...
Ultrasound in Obstetrics & Gynecology. 32 (2008) 3 - p. 318-319 , 2008
Link:
https://doi.org/10.1002/..
?
3
Renal Fanconi syndrome with ultrastructural defects in lysi..:
Benninga, M. A.
;
Lilien, M.
;
de Koning, T. J.
...
Journal of Inherited Metabolic Disease. 30 (2007) 3 - p. 402-403 , 2007
Link:
https://doi.org/10.1007/..
?
4
Normal very‐long‐chain fatty acids in peroxisomal D‐bifunct..:
Soorani‐Lunsing, R. J.
;
van Spronsen, F. J.
;
Stolte‐Dijkstra, I.
...
Journal of Inherited Metabolic Disease. 28 (2005) 6 - p. 1172-1174 , 2005
Link:
https://doi.org/10.1007/..
?
5
Increasing fat in the diet does not improve muscle performa..:
de Meer, K.
;
Roef, M. J.
;
de Klerk, J. B. C.
...
Journal of Inherited Metabolic Disease. 28 (2005) 1 - p. 95-98 , 2005
Link:
https://doi.org/10.1007/..
?
6
Ornithine aminotransferase deficiency: Diagnostic difficult..:
Cleary, M. A.
;
Dorland, L.
;
de Koning, T. J.
...
Journal of Inherited Metabolic Disease. 28 (2004) 5 - p. 673-679 , 2004
Link:
https://doi.org/10.1007/..
?
7
The eye as a window to inborn errors of metabolism:
Poll‐The, B. T.
;
Maillette De Buy Wenniger‐Prick, L. J.
;
Barth, P. G.
.
Journal of Inherited Metabolic Disease. 26 (2003) 2-3 - p. 229-244 , 2003
Link:
https://doi.org/10.1023/..
?
8
Short Report: Plasma pipecolic acid is frequently elevated ..:
Baas, J. C. M.
;
van de Laar, R.
;
Dorland, L.
...
Journal of Inherited Metabolic Disease. 25 (2003) 8 - p. 699-701 , 2003
Link:
https://doi.org/10.1023/..
?
9
Congenital microcephaly and seizures due to 3‐phosphoglycer..:
De Koning, T. J.
;
Duran, M.
;
Maldergem, L. Van
...
Journal of Inherited Metabolic Disease. 25 (2002) 2 - p. 119-125 , 2002
Link:
https://doi.org/10.1023/..
?
10
Tetrahydrobiopterin‐responsive phenylalanine hydroxylase de..:
Spaapen, L. J. M.
;
Bakker, J. A.
;
Velter, C.
...
Journal of Inherited Metabolic Disease. 24 (2001) 3 - p. 352-358 , 2001
Link:
https://doi.org/10.1023/..
?
11
Hyperketonaemia in glycerol kinase deficiency:
Sjarif, D. R.
;
Dorland, L.
;
Sperl, W.
...
Journal of Inherited Metabolic Disease. 23 (2000) 7 - p. 760-764 , 2000
Link:
https://doi.org/10.1023/..
?
12
Isolated and contiguous glycerol kinase gene disorders: A r..:
Sjarif, D. R.
;
Ploos van Amstel, J. K.
;
Duran, M.
..
Journal of Inherited Metabolic Disease. 23 (2000) 6 - p. 529-547 , 2000
Link:
https://doi.org/10.1023/..
?
13
Molecular basis of classical mevalonic aciduria and the hyp..:
Houten, S. M.
;
Frenkel, J.
;
Kuis, W.
...
Journal of Inherited Metabolic Disease. 23 (2000) 4 - p. 367-370 , 2000
Link:
https://doi.org/10.1023/..
?
14
Mevalonic aciduria in 12 unrelated patients with hyperimmun..:
Poll‐The, B. T.
;
Frenkel, J.
;
Houten, S. M.
...
Journal of Inherited Metabolic Disease. 23 (2000) 4 - p. 363-366 , 2000
Link:
https://doi.org/10.1023/..
?
15
Muscle strength in children with medium‐chain acyl‐CoA dehy..:
Custers, J. W. H.
;
Poll‐The, B. T.
;
Duran, M.
...
Journal of Inherited Metabolic Disease. 22 (1999) 2 - p. 200-201 , 1999
Link:
https://doi.org/10.1023/..
1-15