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1 . Academic Journal
Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program
저자
by
Yoo, Han Wook
;
Astrin, Kenneth H.
;
Desnick, Robert J.
.
소스
Journal of Korean Medical Science
. 8(1):84-91
Open Access (KoreaMed Synapse)
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5 . Academic Journal
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
저자
by
van Loggerenberg, Warren
;
Sowlati-Hashjin, Shahin
;
Weile, Jochen
;
Hamilton, Rayna
;
Chawla, Aditya
, et al.
소스
In
The American Journal of Human Genetics
5 October 2023 110(10):1769-1786
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7 . Academic Journal
ABCB6 polymorphisms are not overly represented in patients with porphyria
저자
by
Farrell, Colin P.
;
Nicolas, Gäel
;
Desnick, Robert J.
;
Parker, Charles J.
;
Lamoril, Jerome
, et al.
소스
In
Blood Advances
8 February 2022 6(3):760-766
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7 . Academic Journal
Acute Hepatic Porphyrias: “Purple Flags”—Clinical Features That Should Prompt Specific Diagnostic Testing
저자
by
Anderson, Karl E.
;
Desnick, Robert J.
;
Stewart, M. Felicity
;
Ventura, Paolo
;
Bonkovsky, Herbert L.
.
소스
In
The American Journal of the Medical Sciences
January 2022 363(1):1-10
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7 . Academic Journal
ZFN-mediated in vivo gene editing in hepatocytes leads to supraphysiologic α-Gal A activity and effective substrate reduction in Fabry mice
저자
by
Pagant, Silvere
;
Huston, Marshall W.
;
Moreira, Luciana
;
Gan, Lin
;
St Martin, Susan
, et al.
소스
In
Molecular Therapy
3 November 2021 29(11):3230-3242
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7 . Academic Journal
Congenital erythropoietic porphyria.
저자
by
To‐Figueras, Jordi
;
Erwin, Angelika L.
;
Aguilera, Paula
;
Millet, Oscar
;
Desnick, Robert J.
.
소스
Liver International
. May2024, p1. 14p. 11 Illustrations, 2 Charts.
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7 . Academic Journal
Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy
저자
by
Frustaci, Andrea
;
Chimenti, Cristina
;
Doheny, Dana
;
Desnick, Robert J.
.
소스
In
International Journal of Cardiology
1 December 2017 248:257-262
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6 . Academic Journal
Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria.
저자
by
Yasuda, Makiko
;
Lee, Sangmi
;
Gan, Lin
;
Bergonia, Hector A.
;
Desnick, Robert J.
, et al.
소스
Biomolecules (2218-273X)
. Jan2024, Vol. 14 Issue 1, p27. 15p.
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7 . Academic Journal
α-Galactosidase A Knockout Mice: Progressive Organ Pathology Resembles the Type 2 Later-Onset Phenotype of Fabry Disease
저자
by
Bangari, Dinesh S.
;
Ashe, Karen M.
;
Desnick, Robert J.
;
Maloney, Colleen
;
Lydon, John
, et al.
소스
In
The American Journal of Pathology
March 2015 185(3):651-665
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7 . Academic Journal
Acute Porphyrias in the USA: Features of 108 Subjects from Porphyrias Consortium
저자
by
Bonkovsky, Herbert L.
;
Maddukuri, Vinaya C.
;
Yazici, Cemal
;
Anderson, Karl E.
;
Bissell, D. Montgomery
, et al.
소스
In
The American Journal of Medicine
December 2014 127(12):1233-1241
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