Results 231 to 240 of about 9,057,553 (322)

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease. [PDF]

JIMD Rep
Leslie AC, Jarnes J, Ahmed A, Shrestha S, Wang J, Whitley CB, Pillai NR.   +6 more
europepmc   +1 more source

Correction: Pharmacokinetic evaluation of single-dose migalastat in non-Fabry disease subjects with ESRD receiving dialysis treatment, and use of modeling to select dose regimens in Fabry disease subjects with ESRD receiving dialysis treatment. [PDF]

PLoS One
Johnson FK, Wu S, Schmith G, Williams H, Rutecki J, Halabi A, Feldkamp T, Sileno A.   +7 more
europepmc   +1 more source

Cardiac Manifestations in Fabry Disease: A Case Report on Two Siblings. [PDF]

Diagnostics (Basel)
Kovačić S, Nadarević T, Žauhar P, Vujičić B, Žuža I.   +4 more
europepmc   +1 more source

Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease. [PDF]

Orphanet J Rare Dis
Germain DP, Gruson D, Malcles M, Garcelon N.   +3 more
europepmc   +1 more source

Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease. [PDF]

Int J Mol Sci
Anania M, Pieruzzi F, Giacalone I, Trezzi B, Marsana EM, Roggero L, Francofonte D, Stefanoni M, Vinci M, Zizzo C, Zora M, Di Chiara T, Duro G, Duro G, Colomba P.   +14 more
europepmc   +1 more source

Parapelvic kidney cysts: A distinguishing feature with high prevalence in Fabry disease

, 2004
Markus Ries, Karen E. Bove bETTIS, Peter L. Choyke, Jeffrey B. Kopp, Howard A. Austin, Roscoe O. Brady, Raphael Schiffmann   +6 more
openalex   +1 more source

The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China. [PDF]

Ann Med
Leng Y, Zhao Y, Zhou H, Ling X, Wang X, Zhao G, Zhang W.   +6 more
europepmc   +1 more source

Changes in peak oxygen consumption in Fabry disease and associations with cardiomyopathy severity. [PDF]

Heart
Roy A, Thompson SE, Hodson J, van Vliet J, Condon N, Alvior AM, O'Shea C, Vijapurapu R, Nightingale TE, Clift PF, Townend J, Geberhiwot T, Steeds RP.   +12 more
europepmc   +1 more source

Invention of an oral medication for cardiac Fabry disease caused by RNA mis-splicing. [PDF]

Sci Adv
Awaya T, Ajiro M, Kobayashi H, Sawada T, Gotanda K, Noji T, Takemoto N, Iida K, Saito MK, Niu DM, Hagiwara M.   +10 more
europepmc   +1 more source

Fabry Disease Female Proband With Clinical Manifestations Similar to Hypertrophic Cardiomyopathy

, 2004
Masakazu Teragaki, Akemi Tanaka, Kaname Akioka, Hoang Thi Ngkoc Lan, Yasuaki Nishi, Tsunekazu Yamano, Junichi Yoshikawa   +6 more
openalex   +2 more sources