E-LIB Suche - Ergebnisse für: Tylee, Karen

1

Improving newborn screening test performance for metachroma..:

WU, Teresa H.Y. ; Brown, Heather A. ; Church, Heather J....
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108349 , 2024

Link: https://doi.org/10.1016/..

2

Hepatomegaly and Splenomegaly: An Approach to the Diagnosis..:

Jerves Serrano, Teodoro ; Gold, Jessica ; Cooper, James A....
Journal of Clinical Medicine. 13 (2024) 5 - p. 1465 , 2024

Link: https://doi.org/10.3390/..

3

How many sulphatase deficiencies become multiple? The diagn..:

Church, Heather J. ; Brammeier, Kathryn L. ; Petty, June...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107796 , 2024

Link: https://doi.org/10.1016/..

4

Validation of an assay to measure iduronate-2-sulfatase act..:

French, Stephanie A. ; Brammeier, Kathryn L. ; Jones, Simon..
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107106 , 2023

Link: https://doi.org/10.1016/..

5

Long-term outcomes in two adult siblings with Fucosidosis –..:

Puente-Ruiz, Nuria ; Ellis, Ian ; Bregu, Marsel...
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101009 , 2023

Link: https://doi.org/10.1016/..

6

Clinical trial update: Ex-vivo autologous hematopoietic ste..:

Jones, Simon A. ; Kinsella, Jane L. ; Potter, Jane...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S63-S64 , 2022

Link: https://doi.org/10.1016/..

7

Juvenile mucopolysaccharidosis plus disease caused by a mis..:

Pavlova, Elena V. ; Lev, Dorit ; Michelson, Marina...
Human Mutation. 43 (2022) 12 - p. 2265-2278 , 2022

Link: https://doi.org/10.1002/..

8

Graft rejection and spontaneous recovery in mucopolysacchar..:

Church, Heather J. ; Brammeier, Kathryn L. ; Petty, June...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S32-S33 , 2022

Link: https://doi.org/10.1016/..

9

Pediatric experience of Fabry patients since the advent of ..:

Broomfield, Alexander ; Tan, Chern ; Tylee, Karen...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S27 , 2022

Link: https://doi.org/10.1016/..

10

Ex-vivo autologous stem cell gene therapy clinical trial fo..:

Kinsella, Jane Louise ; Jones, Simon ; Thrasher, Adrian J....
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S56-S57 , 2021

Link: https://doi.org/10.1016/..

11

Pathogenic variants in GNPTAB and GNPTG encoding distinct s..:

Di Lorenzo, Giorgia ; Westermann, Lena M. ; Yorgan, Timur A....
Genetics in Medicine. 23 (2021) 12 - p. 2369-2377 , 2021

Link: https://doi.org/10.1038/..

12

High dose genistein in Sanfilippo syndrome: A randomised co..:

Ghosh, Arunabha ; Rust, Stewart ; Langford‐Smith, Kia...
Journal of Inherited Metabolic Disease. 44 (2021) 5 - p. 1248-1262 , 2021

Link: https://doi.org/10.1002/..

13

Mosaic Fabry disease in a male presenting as hypertrophic c..:

Orsborne, Christopher ; Xu, Maria ; Eden, James...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S80 , 2021

Link: https://doi.org/10.1016/..

14

Long-term outcomes in adult patients affected with fucosido..:

Stepien, Karolina M. ; Chen, Cliff ; Hackett, Richard...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S103 , 2021

Link: https://doi.org/10.1016/..

15

Long-term outcomes in adults affected with mucolipidosis ty..:

Oldham, Andrew ; Tan, Chong Yew ; Hendriksz, Christian J....
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S120 , 2020

Link: https://doi.org/10.1016/..