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1 . Academic Journal
UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses
저자
by
Auray-Blais, Christiane
;
Lavoie, Pamela
;
Tomatsu, Shunji
;
Valayannopoulos, Vassili
;
Mitchell, John J.
, et al.
소스
In
Analytica Chimica Acta
14 September 2016 936:139-148
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7 . Academic Journal
From splitting GLUT1 deficiency syndromes to overlapping phenotypes
저자
by
Hully, Marie
;
Vuillaumier-Barrot, Sandrine
;
Le Bizec, Christiane
;
Boddaert, Nathalie
;
Kaminska, Anna
, et al.
소스
In
European Journal of Medical Genetics
September 2015 58(9):443-454
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7 . Academic Journal
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study
저자
by
Aldenhoven, Mieke
;
Wynn, Robert F.
;
Orchard, Paul J.
;
O’Meara, Anne
;
Veys, Paul
, et al.
소스
In
Blood
26 March 2015 125(13):2164-2172
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7 . Academic Journal
The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.
저자
by
Ford, Charles L.
;
Riggs, William J.
;
Quigley, Tera
;
Keifer Jr., Orion P.
;
Whitton, Jonathon P.
, et al.
소스
Human Genetics
. Oct2023, Vol. 142 Issue 10, p1429-1449. 21p.
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7 . Academic Journal
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
저자
by
Sumathipala, Dulika
;
Strømme, Petter
;
Fattahi, Zohreh
;
Lüders, Torben
;
Sheng, Ying
, et al.
소스
Brain: A Journal of Neurology
. Jul2022, Vol. 145 Issue 7, p2602-2616. 15p.
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7 . Academic Journal
Efficacy and Safety of Sebelipase Alfa in Children and Adults with Lysosomal Acid Lipase Deficiency: Results of a Phase 3 Trial†
저자
by
Rojas-Caro, Sandra
;
Burton, Barbara
;
Valayannopoulos, Vassili
;
Balwani, Manisha
;
Kane, John
, et al.
소스
In
Journal of Clinical Lipidology
May-June 2015 9(3):429-430
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7 . Academic Journal
Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
저자
by
Pontoizeau, Clément
;
Roda, Célina
;
Arnoux, Jean-Baptiste
;
Vignolo-Diard, Patricia
;
Brassier, Anais
, et al.
소스
Molecular Genetics & Metabolism
. Jun2020, Vol. 130 Issue 2, p110-117. 8p.
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7 . Academic Journal
Effect of Sebelipase Alfa After 90 Weeks in Adults with Lysosomal Acid Lipase Deficiency
저자
by
Tripuraneni, Radhika
;
Whitley, Chester B.
;
Valayannopoulos, Vassili
;
Malinova, Vera
;
Sharma, Reena
, et al.
소스
In
Journal of Clinical Lipidology
May-June 2014 8(3):354-355
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7 . Academic Journal
Dyslipidemia and Sustained Transaminase Elevations from Early Childhood are Common in Lysosomal Acid Lipase Deficiency
저자
by
Tripuraneni, Radhika
;
Burton, Barbara
;
Deegan, Patrick
;
Di. Rocco, Maja
;
Enns, Greg
, et al.
소스
In
Journal of Clinical Lipidology
May-June 2014 8(3):306-307
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7 . Academic Journal
Predictors of Long-Term Clinical Outcome in Hurler Syndrome Patients after Successful Hematopoietic Cell Transplantation: An International Study
저자
by
Aldenhoven, Mieke
;
Orchard, Paul
;
Kurtzberg, Joanne
;
Wynn, Robert
;
O'Meara, Anne
, et al.
소스
In
Biology of Blood and Marrow Transplantation
February 2014 20(2) Supplement:S78-S79
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