D. Hughes
发表
T. Foltynie,
J. Cooper,
A. McNeill,
2014,
Brain : a journal of neurology.
Rishi Sharma,
K. Poole,
R. Lachmann,
2021,
Orphanet Journal of Rare Diseases.
S. K. White,
M. Robson,
S. Piechnik,
2013,
Circulation. Cardiovascular imaging.
D. Hughes,
G. Pastores,
2009
.
S. Bardins,
S. Jones,
C. Y. Tan,
2020,
Orphanet Journal of Rare Diseases.
C. Hollak,
M. Cappellini,
M. Berger,
2007,
British journal of haematology.
Laurie D. Smith,
P. Fernhoff,
J. Charrow,
2013,
American journal of hematology.
T. Kodama,
S. Gordon,
Hiroshi Suzuki,
1997,
The Journal of experimental medicine.
Christos Proukakis,
Fritz J. Sedlazeck,
Anthony H.V. Schapira,
2018,
bioRxiv.
A. Mehta,
D. Hughes,
Alison S. Thomas,
2014,
British journal of haematology.
R. Schiffmann,
D. Bichet,
R. Torra,
2021,
Molecular genetics and metabolism reports.
P. Barnes,
S. Kharitonov,
M. Hodson,
2000,
Thorax.
Cappellini,
U. Jäger,
D. Cassiman,
2016
.
D. Hughes,
Shehzad Ali,
A. Lloyd,
2017,
Current medical research and opinion.
J. Szer,
B. Bembi,
A. Mehta,
2019,
Internal medicine journal.
D. Hughes,
G. Pastores,
2014
.
Atul Mehta,
Matthias Löhle,
Heinz Reichmann,
2015,
Neurology.
J. Oliveira,
C. Wanner,
R. Baron,
2018,
Molecular genetics and metabolism.
R. Lachmann,
D. Hughes,
P. Deegan,
2007,
Journal of Inherited Metabolic Disease.
J. Moon,
R. Steeds,
D. Kotecha,
2019,
Heart.
G. Figtree,
J. Moon,
R. Steeds,
2019,
Trials.
P. Elliott,
A. Mehta,
G. Quarta,
2011,
Heart.
N. Sousa,
D. Hughes,
O. Azevedo,
2018,
Journal of the American Heart Association.
A. Keren,
P. Elliott,
A. Mehta,
2008,
Journal of the American College of Cardiology.
P. Elliott,
R. Lachmann,
A. Mehta,
2011,
Journal of the American College of Cardiology.
D. Shah,
J. Moon,
G. Captur,
2020,
European heart journal cardiovascular Imaging.
D. Hughes,
2006,
Acta paediatrica (Oslo, Norway : 1992). Supplement.
D. Hughes,
2006
.
R. Giugliani,
D. Hughes,
P. Deegan,
2010,
Clinical genetics.
J. Oliveira,
C. Wanner,
P. Elliott,
2019,
Molecular genetics and metabolism reports.
J. Moon,
G. Captur,
R. Lachmann,
2018,
Circulation. Cardiovascular imaging.
J. Moon,
R. Steeds,
S. Rosmini,
2018,
Heart.
M. Rudnicki,
J. Oliveira,
F. Weidemann,
2015,
Orphanet Journal of Rare Diseases.
Christine Kinnon,
Kl Aitchison,
Ahad A. Rahim,
2011
.
R. Schiffmann,
C. Wanner,
D. Warnock,
2017,
Kidney international.
R. Schiffmann,
C. Wanner,
D. Warnock,
2022
.
R. Schiffmann,
C. Wanner,
D. Warnock,
2018
.
W. Henley,
S. Logan,
D. Hughes,
2014,
Journal of Inherited Metabolic Disease.
D. Hughes,
P. Deegan,
M. Beck,
2005,
Journal of Medical Genetics.
U. Ramaswami,
R. Giugliani,
G. Pintos-Morell,
2016,
Drug design, development and therapy.
R. Schiffmann,
D. Bichet,
R. Giugliani,
2019,
American journal of medical genetics. Part A.
U. Ramaswami,
R. Giugliani,
G. Pintos-Morell,
2019
.
U. Ramaswami,
R. Giugliani,
G. Pintos-Morell,
2016
.
U. Ramaswami,
R. Giugliani,
G. Pintos-Morell,
2016
.
A. Mehta,
U. Ramaswami,
R. Giugliani,
2015,
Molecular genetics and metabolism reports.
S. Feriozzi,
R. Torra,
K. Nicholls,
2022,
Orphanet Journal of Rare Diseases.
C. Wanner,
F. Weidemann,
J. Jefferies,
2020,
ESC heart failure.
S. Feriozzi,
D. Hughes,
2020,
Journal of Nephrology.
R. Schiffmann,
R. Colvin,
O. Goker-Alpan,
2019,
Journal of inherited metabolic disease.
S. Feriozzi,
D. Hughes,
A. Linhart,
2021,
Drug design, development and therapy.
S. Feriozzi,
U. Ramaswami,
D. Hughes,
2020,
Clinical therapeutics.
C. Hollak,
R. Giugliani,
D. Hughes,
2011,
Molecular genetics and metabolism.
K. Poole,
R. Lachmann,
A. Mehta,
2021,
Orphanet Journal of Rare Diseases.
P. Rothwell,
D. Hughes,
H. Segal,
2012,
European journal of neurology.
A. Vellodi,
D. Hughes,
A. Donald,
2022,
Orphanet Journal of Rare Diseases.
J. Moon,
G. Captur,
U. Ramaswami,
2020,
Circulation. Cardiovascular imaging.
J. Moon,
G. Captur,
U. Ramaswami,
2019,
Circulation. Cardiovascular imaging.
J. Moon,
R. Lachmann,
A. Mehta,
2019,
JACC. Cardiovascular imaging.
S. Grieve,
G. Figtree,
J. Moon,
2017,
European heart journal cardiovascular Imaging.
S. K. White,
M. Robson,
P. Kellman,
2014,
Journal of Cardiovascular Magnetic Resonance.
D. Hughes,
B. Beaton,
Philippa J. Rohman,
2016
.
S. Bardins,
C. Y. Tan,
A. Chakrapani,
2020,
Orphanet Journal of Rare Diseases.
W. Henley,
S. Logan,
D. Hughes,
2014,
Journal of Inherited Metabolic Disease.
W. Henley,
S. Logan,
D. Hughes,
2014,
Journal of Inherited Metabolic Disease.
W. Henley,
S. Logan,
R. Lachmann,
2014,
Journal of Inherited Metabolic Disease.
D. Brooks,
A. Schapira,
R. Hinz,
2020,
Movement disorders : official journal of the Movement Disorder Society.
A. Schapira,
H. Zetterberg,
A. McNeill,
2019,
Movement disorders : official journal of the Movement Disorder Society.
A. Mehta,
J. E. Wraith,
D. Hughes,
2011,
Blood cells, molecules & diseases.
M. Duchen,
N. Wood,
A. Schapira,
2013,
Neurochemistry International.
S. Gordon,
I. Fraser,
D. Hughes,
1995,
European journal of immunology.
M. Wright,
A. Barclay,
T. Hanke,
1995,
European journal of immunology.
D. Hughes,
G. Pastores,
2009,
Kidney international.
J. Madrigal,
B. Shaw,
S. Marsh,
2007,
Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
S. Gordon,
I. Fraser,
D. Hughes,
1993,
Nature.
J. Monzón,
D. Hughes,
G. Pastores,
2017
.
John J. Mitchell,
Robert A. Matousek,
B. Burton,
2017,
Molecular genetics and metabolism.
D. Werring,
L. Cipolotti,
E. Chan,
2022,
Journal of inherited metabolic disease.
I. Olivotto,
Damara N. Ortiz,
K. Nicholls,
2020,
Molecular genetics and metabolism.
C. Wanner,
A. V. van Kuilenburg,
M. Langeveld,
2017,
Molecular genetics and metabolism.
F. Weidemann,
J. Fletcher,
F. Cecchi,
2012,
JIMD reports.
A. Mehta,
D. Hughes,
P. Deegan,
2013,
Molecular genetics and metabolism.
C. Wanner,
A. Rolfs,
C. Hollak,
2011,
Molecular genetics and metabolism.
D. Hughes,
2008,
Acta paediatrica.
R. Schiffmann,
J. Moon,
D. Warnock,
2020,
BMJ Open.
P. Elliott,
A. Mehta,
J. Shah,
2007,
Heart.
R. Schiffmann,
P. Elliott,
J. Moon,
2021,
Molecular genetics and metabolism.
J. Moon,
A. Mehta,
S. Castelletti,
2016,
Journal of the American College of Cardiology.
S. K. White,
S. Piechnik,
P. Elliott,
2013,
Journal of Cardiovascular Magnetic Resonance.
P. Elliott,
A. Mehta,
J. Shah,
2005,
Heart.
D. Hughes,
G. Pastores,
J. Pérez-Calvo,
2011,
Molecular genetics and metabolism.
M. Tarnopolsky,
Y. Chien,
J. Charrow,
2021,
The Lancet Neurology.
U. Ramaswami,
R. Giugliani,
G. Pintos-Morell,
2022,
Orphanet Journal of Rare Diseases.
P. Kaplan,
N. Belmatoug,
D. Hughes,
2009,
Blood cells, molecules & diseases.
M. Polkey,
H. Tiddens,
D. Orlikowski,
2017,
Orphanet Journal of Rare Diseases.
B. Byrne,
A. Pestronk,
M. Tarnopolsky,
2021,
The Lancet Neurology.
C. Hollak,
A. Mehta,
D. Hughes,
2017,
Journal of Inherited Metabolic Disease.
S. Gordon,
I. Fraser,
D. Hughes,
1992,
Current Biology.
Robert A. Matousek,
R. Giugliani,
D. Hughes,
2017,
Orphanet Journal of Rare Diseases.
D. Lockhart,
A. Mehta,
R. Giugliani,
2012,
Orphanet Journal of Rare Diseases.
A. Schapira,
D. Garway-Heath,
A. McNeill,
2013,
Molecular genetics and metabolism.
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
B. Byrne,
R. Barohn,
P. Laforêt,
2017,
Orphanet Journal of Rare Diseases.
D. Hughes,
S. Thomas,
E. A. Cooke,
2022,
Healthcare Analytics.
P. Elliott,
R. Lachmann,
A. Mehta,
2015,
Heart.
P. Fernhoff,
A. Mehta,
R. Giugliani,
2012
.
R. Colvin,
D. Bichet,
R. Giugliani,
2019,
Genetics in Medicine.
D. Hughes,
O. Azevedo,
R. Baker,
2017,
Molecular genetics and metabolism.
K. Nicholls,
D. Hughes,
E. Brand,
2016,
Molecular genetics and metabolism.
D. Hughes,
2016,
Current opinion in cardiology.
D. Ward,
D. Hughes,
T. Geberhiwot,
2016,
Journal of The American Society for Mass Spectrometry.
D. Lockhart,
A. Mehta,
R. Giugliani,
2013,
PloS one.
D. Hughes,
S. Suvarna,
L. Keeling,
2011,
Journal of Clinical Pathology.
B. Winchester,
D. Hughes,
A. Gal,
2011,
Journal of Inherited Metabolic Disease.
U. Ramaswami,
D. Hughes,
P. Deegan,
2010,
Molecular genetics and metabolism.
D. Hughes,
2010
.
P. Griffiths,
A. Mehta,
C. Kyriakou,
2019,
European journal of haematology.
S. Gordon,
D. Hughes,
1998
.
S. Gordon,
I. Fraser,
D. Hughes,
1994
.
C. Wheeler-Kingshott,
D. Werring,
X. Golay,
2018,
Neurology.
D. Hughes,
L. Clifton-Hadley,
Paul D. Smith,
2018,
British journal of haematology.
C. Broeckhoven,
B. Sadzot,
V. Thijs,
2013,
Clinical Neurology and Neurosurgery.
P. Waters,
K. Al-Thihli,
R. Salvarinova,
2012,
Gene.
A. Mehta,
W. Khan,
D. Hughes,
2011,
Hip international : the journal of clinical and experimental research on hip pathology and therapy.
D. Hughes,
2009,
American journal of hematology.
D. Hughes,
G. Pastores,
2013,
Current opinion in hematology.
Andrew S Flett,
James C Moon,
Atul Mehta,
2012,
Heart.
D. Hughes,
2011,
Clinical advances in hematology & oncology : H&O.
D. Hughes,
G. Pastores,
2015,
Best practice & research. Clinical endocrinology & metabolism.
A. Mehta,
D. Hughes,
D. McKechnie,
2017,
Molecular genetics and metabolism.
A. Mehta,
D. Hughes,
E. Weith,
2018,
JIMD reports.
U. Ramaswami,
D. Hughes,
L. Richfield,
2016,
The journal of obstetrics and gynaecology research.
K. Wesnes,
C. Niederau,
C. Hollak,
2012,
Journal of Inherited Metabolic Disease.
D. Shah,
G. Captur,
U. Ramaswami,
2020
.
T. Hangartner,
M. Kabra,
A. Mehta,
2015,
American journal of hematology.
J. Hodson,
J. Moon,
R. Steeds,
2020,
JACC. Cardiovascular imaging.
D. Ward,
D. Hughes,
T. Geberhiwot,
2018,
Journal of Inherited Metabolic Disease.
P. Stein,
A. Mehta,
P. Bearcroft,
2011,
Medicine.
D. Hughes,
P. Mikosch,
2010,
Wiener Medizinische Wochenschrift.
M. Husain,
P. Jarman,
A. Schapira,
2014
.
S. Al-Sarraj,
N. Dlamini,
F. Norwood,
2008,
Neuromuscular Disorders.
D. Zafeiriou,
P. Iversen,
J. Szer,
2018,
Blood cells, molecules & diseases.
Laurie D. Smith,
T. Hangartner,
J. Charrow,
2015,
American journal of hematology.
T. Fleming,
B. Burton,
C. Hendriksz,
2013
.
W. Henley,
S. Logan,
R. Lachmann,
2012,
Health technology assessment.
C. Hendriksz,
R. Giugliani,
D. Hughes,
2015,
Molecular genetics and metabolism.
C. Hendriksz,
D. Hughes,
E. Teles,
2021,
Journal of inherited metabolic disease.
L. Poll,
O. Goker-Alpan,
P. Mistry,
2019,
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
M. Balwani,
M. Foster,
N. Belmatoug,
2020,
JIMD reports.
P. Maison-Blanche,
C. Niederau,
J. Richter,
2017,
European journal of internal medicine.
B. Bembi,
C. Hollak,
D. Hughes,
2009,
Pharmacoepidemiology and drug safety.
C. Hollak,
A. Mehta,
N. Belmatoug,
2013,
Blood cells, molecules & diseases.
D. Hughes,
2013,
Medicine.
B. Bembi,
C. Hollak,
D. Hughes,
2007
.
D. Hughes,
G. Pastores,
2010,
Wiener Medizinische Wochenschrift.
A. Mehta,
U. Ramaswami,
D. Hughes,
2017,
Orphanet Journal of Rare Diseases.
C. Wanner,
P. Elliott,
C. Hollak,
2017,
Journal of the American Society of Nephrology : JASN.
W. Henley,
S. Logan,
R. Lachmann,
2013
.
J. Szer,
B. Bembi,
A. Mehta,
2017,
Molecular genetics and metabolism.
B. Bembi,
D. Hughes,
J. Alsop,
2015,
Pharmacoepidemiology and drug safety.
C. Niederau,
C. Hollak,
A. Mehta,
2010,
Brain : a journal of neurology.
S. Revel-Vilk,
D. Hughes,
J. Botha,
2022,
Journal of clinical medicine.
A. Schapira,
A. McNeill,
A. Mehta,
2012,
Journal of Neurology, Neurosurgery & Psychiatry.
A. Mehta,
D. Hughes,
S. Heales,
2018,
Molecular genetics and metabolism.
A. Mehta,
D. Hughes,
L. Ginsberg,
2007,
Parkinsonism & related disorders.
T. Fleming,
P. Slasor,
B. Burton,
2014,
Journal of Inherited Metabolic Disease.
R. Schiffmann,
R. Colvin,
D. Bichet,
2018,
Orphanet Journal of Rare Diseases.
R. Schiffmann,
W. Wilcox,
D. Bichet,
2015
.
R. Schiffmann,
W. Wilcox,
D. Bichet,
2015
.
D. Lockhart,
R. Schiffmann,
C. Barlow,
2016,
Journal of Medical Genetics.
D. Lockhart,
R. Schiffmann,
C. Barlow,
2016,
Genetics in Medicine.
D. Lockhart,
S. Packman,
R. Schiffmann,
2016,
The New England journal of medicine.
P. Postema,
J. Timmermans,
P. Elliott,
2014,
International journal of cardiology.
Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.
J. Oliveira,
C. Wanner,
C. Hollak,
2015,
Molecular genetics and metabolism.
P. Elliott,
A. Hagège,
I. Olivotto,
2020,
European journal of heart failure.
P. Elliott,
R. Lachmann,
A. Mehta,
2011,
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.
P. Elliott,
A. Mehta,
J. Shah,
2005,
The American journal of cardiology.
D. Hughes,
P. Deegan,
M. Beck,
2006
.
R. Schiffmann,
W. Wilcox,
D. Bichet,
2018
.
Rose M. Sheridan,
R. Corbau,
D. Hughes,
2020
.
I. Olivotto,
R. Hopkin,
W. Wilcox,
2022,
Journal of Medical Genetics.
C. Wanner,
A. V. van Kuilenburg,
P. Elliott,
2017,
PloS one.
C. Wanner,
H. Mischak,
D. Warnock,
2011,
PloS one.
P. Deyn,
F. Eyskens,
A. Mehta,
2007,
Clinical Neurology and Neurosurgery.
J. Jarrett,
S. Santra,
E. Murphy,
2021,
Orphanet Journal of Rare Diseases.
A. Mehta,
U. Ramaswami,
I. Proctor,
2018,
British journal of haematology.
Christos Proukakis,
Fritz J Sedlazeck,
Derralynn Hughes,
2019,
Molecular genetics & genomic medicine.
H. Markus,
L. Rutten-Jacobs,
D. Hughes,
2015,
PloS one.
A. Schapira,
A. Schapira,
A. Mehta,
2018,
European journal of neurology.
Christos Proukakis,
Atul Mehta,
Masud Husain,
2014,
Brain : a journal of neurology.
D. Hughes,
G. Pastores,
2017,
Diseases.
A. Schapira,
A. Mehta,
M. Avenali,
2019,
Journal of Neurology, Neurosurgery, and Psychiatry.
A. Schapira,
A. McNeill,
A. Mehta,
2015,
JAMA neurology.
Derralynn Hughes,
Roberto Giugliani,
Michael Beck,
2016
.
C. Wanner,
A. V. van Kuilenburg,
P. Elliott,
2018,
Journal of Medical Genetics.
D. Hughes,
F. Ferrante,
2023,
Future Rare Diseases.
D. Hughes,
G. Pastores,
2020,
Drug design, development and therapy.
R. Schiffmann,
R. Colvin,
O. Goker-Alpan,
2016
.
D. Hughes,
G. Pastores,
2014
.
John J. Mitchell,
Robert A. Matousek,
B. Burton,
2016,
Journal of Inherited Metabolic Disease.
A. Mehta,
D. Hughes,
M. Reed,
2018,
Gene.
U. Srirangalingam,
D. Hughes,
R. Beale,
2020,
Oxford medical case reports.
John J. Mitchell,
Robert A. Matousek,
A. Shaywitz,
2016,
Molecular genetics and metabolism.
L. Longworth,
N. Belmatoug,
D. Hughes,
2022,
Orphanet Journal of Rare Diseases.
D. Hughes,
Paul D. Smith,
K. Yong,
2016
.
A. Samueloff,
H. Baris,
A. Mehta,
2014,
The journal of obstetrics and gynaecology research.
C. van Broeckhoven,
V. Thijs,
F. Eyskens,
2010,
Stroke.
D. Hughes,
A. Donald,
E. Davies,
2019,
Orphanet Journal of Rare Diseases.
C. Wanner,
V. Kimonis,
D. Warnock,
2022,
Molecular genetics and metabolism reports.
D. Hughes,
G. Pastores,
2015
.
P. Elliott,
U. Ramaswami,
C. Jenkinson,
2012,
Journal of Medical Genetics.
J. Hardy,
T. Foltynie,
P. Jarman,
2013,
Movement disorders : official journal of the Movement Disorder Society.
P. Kellman,
S. Plein,
J. Moon,
2019,
Circulation. Cardiovascular imaging.
A. Mehta,
D. Hughes,
H. Ebrahim,
2012,
Journal of Inherited Metabolic Disease.
A. Krishan,
C. Hendriksz,
U. Ramaswami,
2018
.
P. Postema,
J. Timmermans,
P. Elliott,
2014
.
A. Mehta,
D. Hughes,
M. Reed,
2007
.
A. Mehta,
D. Hughes,
D. Webster,
2007
.
Rose M. Sheridan,
W. Heywood,
K. Mills,
2023,
Gene Therapy.
D. Hughes,
2009
.
Wytze J. Vlietstra,
C. Wanner,
A. V. van Kuilenburg,
2020,
International journal of molecular sciences.
A. Dawnay,
P. Elliott,
R. Lachmann,
2013,
The American journal of cardiology.
J. Hardy,
A. Schapira,
N. Wood,
2012,
Movement disorders : official journal of the Movement Disorder Society.
L. Foroni,
D. Hughes,
V. Duke,
2004
.
Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease
D. Hernandez,
M. Nalls,
D. Vitale,
2022,
medRxiv.
J. Dooley,
V. Warbey,
D. Hughes,
2011,
Leukemia & lymphoma.
U. Ramaswami,
D. Hughes,
S. D'Amore,
2021,
Internal medicine journal.
C. Wanner,
D. Hughes,
M. Spada,
2023,
Molecular genetics and metabolism.
A. Schapira,
D. Garway-Heath,
A. McNeill,
2013
.
C. Wheeler-Kingshott,
D. Werring,
L. Cipolotti,
2020,
Brain : a journal of neurology.
J. Moon,
R. Steeds,
D. Kotecha,
2023,
Open heart.
A. Goldstone,
D. Hughes,
A. Prentice,
2005
.
D. Hughes,
R. Ayto,
2013,
Critical reviews in oncogenesis.
L. Longworth,
D. Hughes,
K. Shah,
2023,
Journal of health economics and outcomes research.
D. Kidd,
D. Hughes,
S. Anand,
2018,
Neuro-ophthalmology (Aeolus Press. 1980).
R. Schiffmann,
D. Warnock,
E. Svarstad,
2017,
Kidney international.
J. Oliveira,
C. Wanner,
C. Hollak,
2015
.
R. Jaussaud,
U. Ramaswami,
G. Pintos-Morell,
2007,
The British journal of dermatology.
A. Mehta,
D. Hughes,
A. Milligan,
2006
.
C. Wanner,
P. Elliott,
F. Weidemann,
2019,
Molecular genetics and metabolism.
S. Gordon,
I. Fraser,
D. Hughes,
1992,
Current opinion in immunology.
S. Gordon,
Paul Martin,
D. Hughes,
1994,
Journal of cell science.
A. Mehta,
D. Hughes,
C. C. Kariyawasan,
2007,
QJM : monthly journal of the Association of Physicians.
D. Hughes,
A. Milligan,
L. Richfield,
2006,
British journal of nursing.
K. Nicholls,
D. Hughes,
A. Linhart,
2020
.
D. Hughes,
L. Hubig,
A. Lloyd,
2023,
Journal of health economics and outcomes research.
J. Cooper,
A. Baker,
A. Rahim,
2011,
Gene Therapy.
C. Hendriksz,
E. Murphy,
D. Hughes,
2018
.
D. Hughes,
A. Prentice,
A. Malhotra,
2010,
British journal of haematology.
C. Niederau,
C. Hollak,
A. Mehta,
2010,
Brain : a journal of neurology.
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