Results 101 to 110 of about 10,310 (200)
Giornale di Clinica Nefrologia e Dialisi, 2019 The markers of renal involvement in Anderson-Fabry disease are defects of urine concentration, presence of cells with lipid cytoplasmatic inclusions (mulberry bodies) and podocyturia. The loss of urine concentrating capacity is not easy to detect and the
Sandro Feriozzi, Mario Mangeri
doaj +1 more source
Fabry disease: will markers of early disease enable early treatment and better outcomes? [PDF]
, 2016 PURPOSE OF REVIEW: This review explores the clinical and pathological features of Fabry disease. New modalities of imaging, biomarkers and long-term treatment effects are discussed. RECENT FINDINGS: Fabry disease is clinically heterogeneous, and in women
Hughes, DA
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Biomarkers and Imaging Findings of Anderson–Fabry Disease—What We Know Now
Diseases, 2017 Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation.
Idalina Beirão +6 more
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Clinical and Pathological Findings in Women with Fabry Disease [PDF]
, 2012 Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X.
Carvalho, F +3 more
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Kidneys in Anderson-Fabry disease
Acta clinica Croatica, 2005 Anderson-Fabry disease is an X-linked recessive glycolipid storage disease caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Numerous mutations are responsible for development of the disease. Clinical manifestations include acroparesthesia from childhood, corneal dystrophy, angiokeratomas, hypohidrosis, hearing loss and, with ...
Kes, Petar, Bašić-Jukić, Nikolina
openaire +1 more source
Abstracts of the 18th SCWD Conference, 11‐13 December 2025 in Rome/Italy
JCSM Communications, Volume 9, Issue 1, January/June 2026.
wiley +1 more source
Diagnóstico y tratamiento de la enfermedad de Fabry [PDF]
, 2017 El texto en español se encuentra disponibe en http://doi.org/10.1016/j.medcli.2016.09.047This work was supported by FIS PI13/00047, PI15/00298, CP14/00133, FEDER funds ISCIII-RETIC REDinREN RD12/0021 and RD16/0009, Sociedad Española de Nefrología ...
Ortiz, Alberto +1 more
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Journal of the Belgian Society of Radiology, 2016 Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A. Approximately 50% of patients with AFD may have cardiac involvement.
Shusuke Kasuya +7 more
doaj +1 more source
Fabryjeva bolest - smjernice za dijagnozu i liječenje odraslih bolesnika [Fabry disease - guidelines for diagnosis and management of adult patients] [PDF]
, 2014 Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with ...
Merkler, Marijan +5 more
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