Detalhe da pesquisa
1.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
Am J Hum Genet
; 110(10): 1769-1786, 2023 10 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37729906
2.
Dersimelagon in Erythropoietic Protoporphyrias.
N Engl J Med
; 388(15): 1376-1385, 2023 Apr 13.
Artigo
Inglês
| MEDLINE | ID: mdl-37043653
3.
Anderson-Fabry disease management: role of the cardiologist.
Eur Heart J
; 45(16): 1395-1409, 2024 Apr 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38486361
4.
Congenital erythropoietic porphyria.
Liver Int
; 2024 May 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38717058
5.
Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium.
Hepatology
; 73(5): 1736-1746, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32681675
6.
ZFN-mediated in vivo gene editing in hepatocytes leads to supraphysiologic α-Gal A activity and effective substrate reduction in Fabry mice.
Mol Ther
; 29(11): 3230-3242, 2021 11 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33775910
7.
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.
Hum Mol Genet
; 28(11): 1755-1767, 2019 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30615115
8.
Dersimelagon in Erythropoietic Protoporphyrias. Reply.
N Engl J Med
; 388(26): 2492-2493, 2023 Jun 29.
Artigo
Inglês
| MEDLINE | ID: mdl-37379151
9.
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.
Hepatology
; 71(5): 1546-1558, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31512765
10.
Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP.
Proc Natl Acad Sci U S A
; 115(17): E4071-E4080, 2018 04 24.
Artigo
Inglês
| MEDLINE | ID: mdl-29632172
11.
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.
Genet Med
; 22(3): 590-597, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31690837
12.
5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.
Mol Genet Metab
; 131(4): 418-423, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33199206
13.
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Clin Genet
; 98(6): 562-570, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32901917
14.
A novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment.
BMC Med Res Methodol
; 20(1): 58, 2020 03 13.
Artigo
Inglês
| MEDLINE | ID: mdl-32169041
15.
Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management.
Curr Neurol Neurosci Rep
; 20(12): 56, 2020 10 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33026560
16.
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.
Mol Med
; 25(1): 4, 2019 01 24.
Artigo
Inglês
| MEDLINE | ID: mdl-30678654
17.
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Genet Med
; 21(3): 631-640, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30093709
18.
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Genet Med
; 21(11): 2605-2613, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31073229
19.
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
Mol Genet Metab
; 128(3): 332-341, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30737139
20.
Congenital erythropoietic porphyria: Recent advances.
Mol Genet Metab
; 128(3): 288-297, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30685241