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1 . Academic Journal
Vitamin C Urinary Loss in Fabry Disease: Clinical and Genomic Characteristics of Vitamin C Renal Leak
저자
by
Ebenuwa, Ifechukwude
;
Violet, Pierre-Christian
;
Padayatty, Sebastian J.
;
Wang, Yaohui
;
Tu, Hongbin
, et al.
소스
In
The Journal of Nutrition
July 2023 153(7):1994-2003
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7 . Academic Journal
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource
저자
by
Koch, Rebecca L.
;
Soler-Alfonso, Claudia
;
Kiely, Bridget T.
;
Asai, Akihiro
;
Smith, Ariana L.
, et al.
소스
In
Molecular Genetics and Metabolism
March 2023 138(3)
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7 . Academic Journal
Diagnosis, prognosis, and treatment of leukodystrophies
저자
by
van der Knaap, Marjo S
;
Schiffmann, Raphael
;
Mochel, Fanny
;
Wolf, Nicole I
.
소스
In
The Lancet Neurology
October 2019 18(10):962-972
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6 . Academic Journal
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation
저자
by
Asadollahi, Reza
;
Zweier, Markus
;
Gogoll, Laura
;
Schiffmann, Raphael
;
Sticht, Heinrich
, et al.
소스
In
European Journal of Medical Genetics
September 2017 60(9):451-464
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7 . Academic Journal
Urinary 11-Dehydro-Thromboxane B2 and Mortality in Patients With Stable Coronary Artery Disease
저자
by
McCullough, Peter A.
;
Vasudevan, Anupama
;
Sathyamoorthy, Mohanakrishnan
;
Schussler, Jeffrey M.
;
Velasco, Carlos E.
, et al.
소스
In
The American Journal of Cardiology
1 April 2017 119(7):972-977
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7 . Academic Journal
GDF15 is a dynamic biomarker of the integrated stress response in the central nervous system.
저자
by
Asundi, Jyoti
;
Zhang, Chunlian
;
Donnelly‐Roberts, Diana
;
Solorio, Josè Zavala
;
Challagundla, Malleswari
, et al.
소스
CNS Neuroscience & Therapeutics
. Feb2024, Vol. 30 Issue 2, p1-12. 12p.
Open Access (Wiley)
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7 . Academic Journal
Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP)
저자
by
Schiffmann, Raphael
;
Mengel, Eugen
;
Wallace, Mary
;
Rochmann, Camille
;
Turnbull, James
, et al.
소스
Advances in Therapy
. :1-17
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7 . Academic Journal
O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*
저자
by
Koch, Rebecca
;
Soler-Alfonso, Claudia
;
Kiely, Bridget
;
Asai, Akihiro
;
Smith, Ariana
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
Comparison of efficacy between subcutaneous and intravenous application of moss‐aGal in the mouse model of Fabry disease.
저자
by
Dabrowska‐Schlepp, Paulina
;
Busch, Andreas
;
Shen, Jin‐Song
;
Cheong, Rachel Y.
;
Madsen, Lone Bruhn
, et al.
소스
Journal of Inherited Metabolic Disease Reports; Nov2023, Vol. 64 Issue 6, p460-467, 8p
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7 . Academic Journal
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
저자
by
Potic, Ana
;
Perrier, Stefanie
;
Radovic, Tijana
;
Gavrilovic, Svetlana
;
Ostojic, Jelena
, et al.
소스
Orphanet Journal of Rare Diseases
. 7/13/2023, Vol. 18 Issue 1, p1-17. 17p.
Open Access (BioMed Central)
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