E-LIB Suche - Ergebnisse für: Mckie, Mark

1

Fabry App: The value of a portable technology in recording ..:

Grillo, Giuseppina ; D'Amore, Simona ; Mckie, Mark...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107863 , 2024

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

2

Fabry App: the value of a portable technology in recording ..:

D'Amore, Simona ; Mckie, Mark ; Fahey, Andrew...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

Changes in enzymatic activity of alpha galactosidase A in p..:

Kugan, Mathura ; D'Amore, Simona ; Burke, Derek G....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107922 , 2024

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

4

Migalastat: Single centre experience of adult patients with..:

Ramaswami, Uma ; Mckie, Mark ; Grillo, Giuseppina..
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S121 , 2019

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

5

Nurse-led clinics for Lysosomal Storage Disorders Units (LS..:

Daniel, Amanda V. ; Mckie, Mark A. ; Hughes, Derralynn A.
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S44-S45 , 2019

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

6

Fabry disease mobile phone application - A new service impr..:

Ramaswami, Uma ; Mckie, Mark ; Grillo, Giuseppina...
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S121-S122 , 2019

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

7

Non-neuronopathic Gaucher disease: a retrospective review c..:

Ramaswami, Uma ; Heales, Hannah ; Finnegan, Niamh...
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S113-S114 , 2017

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

8

Vitamin D deficiency in Fabry disease: A single centre, ret..:

Ramaswami, Uma ; Marino, Jacira ; Mckie, Mark..
Molecular Genetics and Metabolism. 117 (2016) 2 - p. S98-S99 , 2016

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

9

Prognostic model for hearing loss in Fabry disease:

Aguiar, Patricio ; Warwick, Allison L. ; McKie, Mark
Molecular Genetics and Metabolism. 117 (2016) 2 - p. S15-S16 , 2016

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

10

Fabry disease: Impact of ERT on renal function. Single-cent..:

Hughes, Derralynn ; Ramaswami, Uma ; Mckie, Mark...
Molecular Genetics and Metabolism. 114 (2015) 2 - p. S56-S57 , 2015

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

11

HEAD CIRCUMFERENCE AND IQ, OF CHILDREN WITH SEX CHROMOSOME ..:

Ratcliffe, Shirley G. ; Masera, Nicoletta ; Pan, Huiqi.
Developmental Medicine & Child Neurology. 36 (2008) 6 - p. 533-544 , 2008

Link: https://doi.org/10.1111/..

12

MuStaR? and other software for locus-specific mutation data..:

Brown, Alastair F. ; McKie, Mark A.
Human Mutation. 15 (2000) 1 - p. 76-85 , 2000

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

13

Additional file 1 of Fabry App: the value of a portable tec..:

Simona D'Amore ; Mark Mckie ; Andrew Fahey...
doi:10.6084/m9.figshare.24987767.v1. , 2024

Link: https://doi.org/10.6084/..

14

Fabry App: the value of a portable technology in recording ..:

Simona D'Amore ; Mark Mckie ; Andrew Fahey...
https://doi.org/10.1186/s13023-023-02999-6. , 2024

Link: https://doi.org/10.1186/..

15

Cover Feature: Inherent Ethyl Acetate Selectivity in a Tria..:

He, Donglin ; Zhao, Chengxi ; Chen, Linjiang...
Chemistry – A European Journal. 27 (2021) 41 - p. 10486-10486 , 2021

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