Ana Lia Tarabuso - Academia.edu (original) (raw)
Uploads
Papers by Ana Lia Tarabuso
![Research paper thumbnail of [Guidelines for diagnosis, monitoring and treatment of Fabry disease]](https://attachments.academia-assets.com/114259097/thumbnails/1.jpg)
](Medicina, 2013
Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the en... more Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.
Clinical Genetics, 2006
Fabry disease is an X‐linked lysosomal disorder caused by the deficiency of the lysosomal enzyme ... more Fabry disease is an X‐linked lysosomal disorder caused by the deficiency of the lysosomal enzyme α‐galactosidase A (α‐Gal A). In males, the laboratory diagnosis is based on the demonstration of decreased levels of α‐Gal A activity, while in females, the disease is diagnosed by the identification of a mutation in α‐Gal A gene. Fabry disease in Argentina is underdiagnosed. To date, no comprehensive screening study of Fabry disease in our country has been reported. The present study aimed at developing a targeted screening for the detection of Fabry patients from Argentina based on the set of typical signs and symptoms. We received 121 blood samples from probable Fabry patients for enzymatic and genetic assay. We diagnosed six Fabry patients from six unrelated families, representing a yield of detection of 4.96%. The mutations detected in five of the families analysed were missense mutations: p.Leu243Trp, p.Asp155His, p.Leu415Pro, p.Cys94Tyr and p.Leu191Pro. After the detection of a Fa...
Dermatología argentina, 2008
Anderson-Fabry's disease is a rare X-linked lysosomal storage disorder caused by a defi cient act... more Anderson-Fabry's disease is a rare X-linked lysosomal storage disorder caused by a defi cient activity of galactosidase A. AIM: to document the prevalence of its dermatologic manifestations on patients from Argentina. Methods: we studied 40 men and 40 women with Fabry's disease. Diagnosis was confi rmed by blood enzyme assay and genetic tests. Results: angiokeratomas were present in 82% of male adults, and in 34% of female adults. The most frequent distribution was: in males the periumbilical area, scrotum and penis, buttocks and lips; in female patients the chest , periumbilical region and fi ngers. Telangiectasia on the oral mucosa were present in 50% of hemizygous and 25% of heterozygous. We found hypohydrosis in 75% of adult males, 31% of adult females, and 18% of female children. We searched for correlations between systemic fi ndings and the presence of angiokeratomas. Conclusion: angiokeratomas were the second most frequent manifestation found in our patients. Dermatologic fi ndings were present usually in hemizygous patients, and less frequently seen both in females and in children. We found a high positive correlation between angiokeratomas and other earlier signs and symptoms of Fabry's disease; therefore we emphasize the role that dermatologists play in early diagnosis (Dermatol Argent 2008;14(5):362-366).
Medicina, 2013
Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the en... more Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.
Clinical Genetics, 2006
Fabry disease is an X‐linked lysosomal disorder caused by the deficiency of the lysosomal enzyme ... more Fabry disease is an X‐linked lysosomal disorder caused by the deficiency of the lysosomal enzyme α‐galactosidase A (α‐Gal A). In males, the laboratory diagnosis is based on the demonstration of decreased levels of α‐Gal A activity, while in females, the disease is diagnosed by the identification of a mutation in α‐Gal A gene. Fabry disease in Argentina is underdiagnosed. To date, no comprehensive screening study of Fabry disease in our country has been reported. The present study aimed at developing a targeted screening for the detection of Fabry patients from Argentina based on the set of typical signs and symptoms. We received 121 blood samples from probable Fabry patients for enzymatic and genetic assay. We diagnosed six Fabry patients from six unrelated families, representing a yield of detection of 4.96%. The mutations detected in five of the families analysed were missense mutations: p.Leu243Trp, p.Asp155His, p.Leu415Pro, p.Cys94Tyr and p.Leu191Pro. After the detection of a Fa...
Dermatología argentina, 2008
Anderson-Fabry's disease is a rare X-linked lysosomal storage disorder caused by a defi cient act... more Anderson-Fabry's disease is a rare X-linked lysosomal storage disorder caused by a defi cient activity of galactosidase A. AIM: to document the prevalence of its dermatologic manifestations on patients from Argentina. Methods: we studied 40 men and 40 women with Fabry's disease. Diagnosis was confi rmed by blood enzyme assay and genetic tests. Results: angiokeratomas were present in 82% of male adults, and in 34% of female adults. The most frequent distribution was: in males the periumbilical area, scrotum and penis, buttocks and lips; in female patients the chest , periumbilical region and fi ngers. Telangiectasia on the oral mucosa were present in 50% of hemizygous and 25% of heterozygous. We found hypohydrosis in 75% of adult males, 31% of adult females, and 18% of female children. We searched for correlations between systemic fi ndings and the presence of angiokeratomas. Conclusion: angiokeratomas were the second most frequent manifestation found in our patients. Dermatologic fi ndings were present usually in hemizygous patients, and less frequently seen both in females and in children. We found a high positive correlation between angiokeratomas and other earlier signs and symptoms of Fabry's disease; therefore we emphasize the role that dermatologists play in early diagnosis (Dermatol Argent 2008;14(5):362-366).