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1 . Academic Journal
Population screening requires robust evidence—genomics is no exception
저자
by
Turnbull, Clare
;
Firth, Helen V
;
Wilkie, Andrew O M
;
Newman, William
;
Raymond, F Lucy
, et al.
소스
In
The Lancet
10-16 February 2024 403(10426):583-586
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7 . Academic Journal
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial
저자
by
Mc Govern, Eavan
;
Yazbeck, Elise
;
Barbier, Magali
;
Luton, Marie-Pierre
;
Pousset, Françoise
, et al.
소스
In
The Lancet Neurology
February 2023 22(2):127-136
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7 . Academic Journal
Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products
저자
by
Sirrs, Sandra M.
;
Arthus, Marie-Francoise
;
Bichet, Daniel G.
;
Rockman-Greenberg, Cheryl
;
LeMoine, Kaye
, et al.
소스
In
Value in Health
February 2021 24(2):268-273
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7 . Academic Journal
Improvements in liver and lipid outcomes continue in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years with olipudase alfa in long-term clinical trials
저자
by
Lachmann, Robin
;
Ganesh, Jaya
;
Giugliani, Roberto
;
Guffon, Nathalie
;
Mengel, Eugen
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
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7 . Academic Journal
Impact of homozygous p.Arg610del genotype on disease burden and treatment response in adults with acid sphingomyelinase deficiency in the ASCEND trial of olipudase alfa
저자
by
Wasserstein, Melissa
;
Kumar, Monica
;
Armstrong, Nicole
;
Cil, Sefika Uslu
;
Firoozan, Arya
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
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7 . Academic Journal
Olipudase alfa enzyme replacement therapy reverses interstitial lung disease in adults with acid sphingomyelinase deficiency: Long-term pulmonary outcomes of the ASCEND trial
저자
by
Wasserstein, Melissa
;
Bonella, Francesco
;
Giugliani, Roberto
;
Lachmann, Robin
;
Noth, Imre
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
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7 . Academic Journal
Baseline demographics of the UK Early Access to Medicines Scheme registry for cipaglucosidase alfa plus miglustat in enzyme replacement therapy-experienced adults with late-onset Pompe disease
저자
by
Roberts, Mark E.
;
Cole, Duncan
;
Deegan, Patrick B.
;
Geberhiwot, Tarekegn
;
Hughes, Derralynn
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
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7 . Academic Journal
Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.
저자
by
Lin, Siying
;
Robson, Anthony G.
;
Thompson, Dorothy A.
;
Stepien, Karolina M.
;
Lachmann, Robin
, et al.
소스
Clinical Genetics
. Oct2024, Vol. 106 Issue 4, p505-511. 7p.
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7 . Academic Journal
Incidence and risk factors for development of left ventricular hypertrophy in Fabry disease.
저자
by
Monda, Emanuele
;
Bakalakos, Athanasios
;
Lachmann, Robin
;
Syrris, Petros
;
Limongelli, Giuseppe
, et al.
소스
Heart; Jun2024, Vol. 110 Issue 12, p846-9, 17p
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7 . Academic Journal
P349: Plasma lyso-sphingomyelin, biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
저자
by
Wasserstein, Melissa
;
Giugliani, Roberto
;
Jones, Simon
;
Lachmann, Robin
;
Scarpa, Maurizio
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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