Results 71 to 80 of about 4,096 (231)
Solitary angiokeratoma of the tongue [PDF]
, 2008 Angiokeratoma is a rare cutaneous lesion. It can be either a generalized systemic form, pesenting as multiple asymptomatic papules on the skin, associated with metabolic diseases or a solitary cutaneous form.
Bodner, Lipa +3 more
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Doença de Fabry - importância do rastreamento em córnea verticilata: relato de caso [PDF]
, 2011 Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea verticillata and skin lesions. In
Arantes, Tiago Eugênio Faria e +2 more
core +2 more sources
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Fabry disease (FD) is a lysosomal storage disease due to genetic variants in the GLA gene located on the X chromosome. Males are hemizygous, while many females are genetic mosaics due to the random inactivation of the X chromosome. While most of the identified variants are deleterious for GLA, in some cases, less rare gene variants have been ...
Antonina Giammanco +7 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.ABSTRACT Purpose To evaluate the disease biomarker response of venglustat in patients with Fabry disease (FD), utilizing data from a single‐arm phase 2 study of venglustat and a placebo‐controlled phase 3 study of agalsidase beta through historical control and case‐matched analyses. Methods Eleven venglustat‐treated male patients with classic FD in the
Dominique P. Germain +6 more
wiley +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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β-Mannosidase deficiency: Heterogeneous manifestation in the first female patient and her brother [PDF]
, 1990 Summary β-Mannosidase deficiency was demonstrated in fibroblasts of a girl who showed severe psychomotor retardation, bone deformities and gargoylism and recurrent skin and ...
Blom, W.A.M. (Wim) +8 more
core +1 more source
The clinical characteristics of benign oral mucosal tumors [PDF]
, 2013 Objectives: To investigate the clinical characteristics and pre-biopsy provisional diagnoses of benign oral mucosal tumors. Material and Methods: A 10- year retrospective analysis of all benign tumors of the oral mucosa, from a univer- Methods: A 10 ...
Allon, Dror M. +4 more
core +1 more source
Fabry Disease Associated With Myelodysplastic Syndrome: Case Report
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT This is the first reported case of Fabry disease (FD) coexisting with myelodysplastic syndrome (MDS). While the coexistence of FD and MDS may be incidental, the case underscores the importance of considering FD in patients with unexplained systemic and hematological abnormalities, particularly those with a family history.
Liping Zheng +5 more
wiley +1 more source
Clinical and Pathological Findings in Women with Fabry Disease [PDF]
, 2009 Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X.
Chan, KH +8 more
core +1 more source
Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland
ESC Heart Failure, Volume 12, Issue 5, Page 3502-3511, October 2025.Abstract Aims To investigate the genetics, cardiac phenotype and cardiovascular outcomes of Finnish Fabry patients. Methods and results Among the 109 patients with Fabry disease (FD) diagnosed in Finland by 2018, 97 (89%; 32 males and 65 females, mean ages 42 and 52 years) were followed for a mean of 12 years.
Kati Valtola +5 more
wiley +1 more source