Search

Author/Creator Poll‐The, Bwee Tien

1. 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. Issue 1 (9th November 2016)

Authors:
van Dijk, Tessa; Barth, Peter; Reneman, Liesbeth; Appelhof, Bart; Baas, Frank; Poll‐The, Bwee Tien
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 1(2017)
Page Start:
207
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Cholic acid therapy in Zellweger spectrum disorders. Issue 6 (28th July 2016)

Authors:
Berendse, Kevin; Klouwer, Femke C. C.; Koot, Bart G. P.; Kemper, Elles M.; Ferdinandusse, Sacha; Koelfat, Kiran V. K.; Lenicek, Martin; Schaap, Frank G.; Waterham, Hans R.; Vaz, Frédéric M.; Engelen, Marc; Jansen, Peter L. M.; Wanders, Ronald J. A.; Poll‐The, Bwee Tien
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 6(2016)
Page Start:
859
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata. Issue 4 (26th January 2021)

Authors:
Fallatah, Wedad; Schouten, Monica; Yergeau, Christine; Di Pietro, Erminia; Engelen, Marc; Waterham, Hans R.; Poll‐The, Bwee Tien; Braverman, Nancy
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 4(2021)
Page Start:
1021
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Evaluation of C26:0‐lysophosphatidylcholine and C26:0‐carnitine as diagnostic markers for Zellweger spectrum disorders. Issue 6 (4th July 2017)

Authors:
Klouwer, Femke C. C.; Ferdinandusse, Sacha; van Lenthe, Henk; Kulik, Wim; Wanders, Ronald J. A.; Poll‐The, Bwee Tien; Waterham, Hans R.; Vaz, Frédéric M.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 6(2017)
Page Start:
875
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. S‐adenosylmethionine and S‐adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation. Issue 6 (8th February 2013)

Authors:
Hagebeuk, Eveline E. O.; Duran, Marinus; Abeling, Nico G. G. M.; Vyth, Arno; Poll‐The, Bwee Tien
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 6(2013)
Page Start:
967
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗