Results 191 to 200 of about 9,399,207 (308)

СLINICAL CASE OF FABRY DISEASE [PDF]

O. M. Ovcharova, Y. M. Makukha
openalex   +1 more source

Gastrointestinal symptoms in adults with Fabry disease and their associations with physical and mental health. [PDF]

BMC Gastroenterol
Weedon-Fekjær MS, Pihlstrøm HK, Weedon-Fekjær H, Berentsen B, Hatlebakk JG, Bjerkely B, Solberg OK, Heimdal KR, Ørstavik K, Jenssen TG, Sigurdardottir S.   +10 more
europepmc   +1 more source

Identification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease [PDF]

, 2015
Toshiko Umeda, Seiji Hashimoto, Kazuyuki Noriyasu, Ayumi Takamura, Miwa Fujisaki, Yoshikatsu Eto   +5 more
openalex   +1 more source

Progress in the understanding and treatment of Fabry disease.

Biochimica et Biophysica Acta - General Subjects, 2020
James J. Miller, Adam J. Kanack, N. Dahms   +2 more
semanticscholar   +1 more source

Targeted questionnaires improve detection of early gastrointestinal symptoms in young children with Fabry disease. [PDF]

Orphanet J Rare Dis
Quillin A, Waddel H, Gunn G, Druss J, Ali N, Wilcox W, Laney D.   +6 more
europepmc   +1 more source

Genetic insights and therapeutic implications in Egyptian patients with Fabry Disease [PDF]

Ekram Fateen, Eman E.A. Mohammed, Nahla N. Abdel‐Aziz, Zeniab Y. Abdallah, Rasha M. Elhossini, Mona Aglan   +5 more
openalex   +1 more source

Fabry's disease [PDF]

Arthritis & Rheumatism, 1980
J. Crouzet, L. Beraneck, Y. Le Charpentier, R. Abelanet   +3 more
openaire   +1 more source

Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease. [PDF]

Genet Med Open
Germain DP, Al-Jasmi F, Altarescu G, Azevedo O, Barreto FC, Burlina AP, Ezgü F, Laney DA, Linhart A, Maski M, Moiseev S, Niu DM, Nochioka K, Ouyang Y, Onay H, Pavlou M, Pachter N, Politei J, Rawda S, Steeds RP, Tuttolomondo A, Yu WC, West ML, Berger KI, Maksimova I.   +24 more
europepmc   +1 more source

Fabry Disease [PDF]

, 2019
National Institute of Neurological Disorders and Stroke (NINDS)
openalex   +1 more source

Fabry Disease Associated With Myelodysplastic Syndrome: Case Report. [PDF]

Clin Case Rep
Zheng L, Wu Z, Chen S, Weng C, Huang J, Chen J.   +5 more
europepmc   +1 more source