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Tylee, Karen
97
results:
Search for persons
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Online (97)
Mediatypes
Articles (Online) (62)
Bookchapter (Online) (1)
OpenAccess-fulltext (34)
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?
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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
1-15