Search

Author/Creator Tylee, Karen

1. "Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay. Issue 9 (18th July 2019)

Authors:
Jahic, Amir; Günther, Sven; Muschol, Nicole; Fossøy Stadheim, Barbro; Braaten, Øivind; Kjensli Hyldebrandt, Hanne; Kuiper, Gé‐Ann; Tylee, Karen; Wijburg, Frits A.; Beetz, Christian
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 9(2019)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Diagnosing mucopolysaccharidosis IVA. Issue 2 (1st February 2013)

Authors:
Wood, Timothy C.; Harvey, Katie; Beck, Michael; Burin, Maira Graeff; Chien, Yin‐Hsiu; Church, Heather J.; D'Almeida, Vânia; van Diggelen, Otto P.; Fietz, Michael; Giugliani, Roberto; Harmatz, Paul; Hawley, Sara M.; Hwu, Wuh‐Liang; Ketteridge, David; Lukacs, Zoltan; Miller, Nicole; Pasquali, Marzi...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 2(2013)
Page Start:
293
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. High dose genistein in Sanfilippo syndrome: A randomised controlled trial. Issue 5 (13th June 2021)

Authors:
Ghosh, Arunabha; Rust, Stewart; Langford‐Smith, Kia; Weisberg, Daniel; Canal, Maria; Breen, Catherine; Hepburn, Michelle; Tylee, Karen; Vaz, Frédéric M.; Vail, Andy; Wijburg, Frits; O'Leary, Claire; Parker, Helen; Wraith, J. Ed; Bigger, Brian W.; Jones, Simon A.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 5(2021)
Page Start:
1248
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Identification of patients with Pompé disease using routine pathology results: PATHFINDER (creatine kinase) study. Issue 12 (15th July 2019)

Authors:
Reynolds, Tim M; Tylee, Karen; Booth, Kathryn; Wierzbicki, Anthony S
Other Names:
author non-byline.; Likhari Taruna author non-byline.; Peters Genessa author non-byline.; McRobertm Nicky author non-byline.; Burbage Jamie author non-byline.; Capps Nigel author non-byline.; Tonks Louise author non-byline.; Reynolds Tim author non-byline.; Reynolds Jane author non-byline.; Mewl...
Journal:
Journal of clinical pathology
Issue:
Volume 72:Issue 12(2019)
Page Start:
805
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experience. Issue 2 (21st June 2012)

Authors:
Wiseman, Daniel H.; Mercer, Jean; Tylee, Karen; Malaiya, Nilima; Bonney, Denise K.; Jones, Simon A.; Wraith, J Edmond; Wynn, Robert F.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 2(2013)
Page Start:
263
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗