Results 221 to 230 of about 9,057,553 (322)

Underdiagnosis of Fabry disease in minority ethnic groups. [PDF]

Mol Genet Metab Rep
Church Smith CL, Roy A, Steeds S, Tuzcuoglu N, Wingrove C, Aitchison K, Radford C, Boyes LA, Stewart F, Geberhiwot T, Steeds RP.   +10 more
europepmc   +1 more source

Painful arm in syringomyelia and Fabry disease [PDF]

, 2004
Abhijit Chaudhuri
openalex   +1 more source

Assessing osteopenia and osteoporosis with dual-energy x-ray absorptiometry studies in Fabry disease. [PDF]

Orphanet J Rare Dis
Shmara A, Lee G, Mgdsyan M, Hall K, Sadri N, Martin-Rios A, Valentine K, Kain T, Pahl M, Polgreen LE, Kimonis V.   +10 more
europepmc   +1 more source

Role of standard echocardiography in Anderson-Fabry disease. [PDF]

Front Cardiovasc Med
Conte M, Cioffi G, Romeo MG, Petraglia L, Parente E, Poggio P, Myasoedova V, Russo V, Lauro R, Accardo R, Leosco D, Parisi V.   +11 more
europepmc   +1 more source

207 Diagnosis of Anderson-Fabry Disease in Childhood. What Should We Focus on? [PDF]

, 2004
Rossella Parini, Uma Ramaswami, Catharina Whybra, Atul Mehta, Roberta Ricci, Urs Widmer, Michael Beck   +6 more
openalex   +1 more source

Newborn screening for Fabry disease in the western region of Japan

Molecular Genetics and Metabolism Reports, 2020
Takaaki Sawada, Jun Kido, S. Yoshida, K. Sugawara, K. Momosaki, Takahito Inoue, G. Tajima, Hirotake Sawada, Shirou Mastumoto, F. Endo, S. Hirose, Kimitoshi Nakamura   +11 more
semanticscholar   +1 more source

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease [PDF]

, 2005
Ellen Schäfer, Karin Baron, Urs Widmer, Patrick Deegan, Hartmut P.H. Neumann, Gere Sunder‐Plassmann, Per Johansson, Catharina Whybra, Markus Ries, Gregory M. Pastores, Atul Mehta, Michael Beck, Andreas Gal   +12 more
openalex   +1 more source

"Real world" medical care of patients with Fabry disease by primary care physicians, internists or general practitioners. [PDF]

Cardiovasc Diagn Ther
Mayer O, Kaemmerer H, Ewert P, Freiberger A, Lagler FB, Regenbogen C, Trenkwalder T, von Scheidt F, Kurschat C, Freilinger S.   +9 more
europepmc   +1 more source

Myocardial blood flow in patients with anderson-fabry disease and cardiac involvement

, 2003
Bhavesh Sachdev, Heiko Kindler, Ornella Rimoldi, Philip Lee, Rajesh Thaman, William J. McKenna, Perry Elliott, Paolo G. Camici   +7 more
openalex   +1 more source

A Novel Mutation (c. 1072_1074delGAG) in the α-Galactosidase Gene of a Taiwanese Family with Fabry Disease

, 2004
Kuan-Hsing Wu, Tien‐Yi Tzung, Long‐Sun Ro, Kwang‐Jen Hsiao   +3 more
openalex   +1 more source