Results 121 to 130 of about 982 (163)

Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension. [PDF]

Nat Commun
Nordbeck P, Goker-Alpan O, Bernat JA, Germain DP, Giraldo P, Jovanovic A, Kimonis V, Nicholls K, Rockman-Greenberg C, Schiffmann R, Thomas M, Tylki-Szymanska A, Wallace E, Welford RWD, West ML, Clozel M, Frey A, Trokan L, Mueller MS, Vogler M, Wanner C, Hughes D.   +21 more
europepmc   +1 more source

Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report. [PDF]

Front Cardiovasc Med
Li Y, Huang B, Luo S.
europepmc   +1 more source

Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease

, 2015
Özlem Göker-Alpan, Michael J. Gambello, Gustavo Maegawa, Khan Nedd, Daniel Gruskin, Larry Blankstein, Neal J. Weinreb   +6 more
openalex   +2 more sources

A structured list of laboratory tests for screening the possible causes of small fiber neuropathy in clinical practice. [PDF]

Front Neurol
Lefaucheur JP, Gendre T, Sène D.
europepmc   +1 more source

Covert Transthyretin Amyloidosis Mimicking Advanced Obstructive Hypertrophic Cardiomyopathy Despite Multiple Negative ^99mTc-PYP Radionuclide Scans. [PDF]

JACC Case Rep
Reuter M, Wu W, Massera D, Phillips L, Zhou F, Alvarez-Cardona J, Reyentovich A, Larson D, Maleszewski J, Sherrid M.   +9 more
europepmc   +1 more source

A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels

A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low alpha-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene. This mutation was considered
openaire  

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases. [PDF]

J Lipid Res
Sidorina A, Catesini G, Deodato F, Boenzi S, Martinelli D, Rizzo C, Dionisi-Vici C.   +6 more
europepmc   +1 more source

Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards. [PDF]

Mol Genet Metab Rep
Giugliani R, Politei J, Martins A, Murillo N, Rozenfeld P, Lopera M, Salgado S, Quirós G, Marques C, Vieira O, Amartino H, Perretta F, Marques E Silva S, Brooks J, Titievsky L, Villalobos J, Braga C, Peñaranda HA.   +17 more
europepmc   +1 more source

Functional and histopathologic correlation in the fabry nephropathy with N215S genotype. [PDF]

Orphanet J Rare Dis
Mignani R, Berti GM, Vischini G, Di Costanzo R, Ciurli F, Vetrano D, Biagini E, Serratore S, Fabbrizio B, Pasquinelli G, La Manna G, Capelli I.   +11 more
europepmc   +1 more source

Unexpected Hypotension in a Female Patient with Fabry Disease: Switching from Agalsidase α to β after Long-term ERT. [PDF]

Intern Med
Sugiura T, Muto R, Amano T, Kamiya F, Sato Y, Maeda K, Saito S, Katsuno T, Kato N, Higashi M, Numaguchi A, Matsuda N, Sugiura K, Maruyama S.   +13 more
europepmc   +1 more source