E-book
Fabry Disease [electronic resource] / edited by Deborah Elstein, Gheona Altarescu, Michael Beck.
Record details
- ISBN: 9789048190331
- Physical Description: XXXVII, 512p. online resource.
- Publisher: Dordrecht : Springer Netherlands : 2010.
Search for related items by subject
| Subject: | Medicine. Human genetics. Metabolic diseases. Medicine & Public Health. Metabolic Diseases. Human Genetics. |
Electronic resources
| Molecular genetics of Fabry disease and genotype-phenotype correlation / Andreas Gal | ||
| The structure of human alpha-galactosidase A and implications for Fabry disease / Abigail I. Guce and Scott C. Garman | ||
| Subcellular, cellular and organ pathology of Fabry disease / Milan Elleder | ||
| Biochemistry of Fabry disease / Martin Hérebâiécek and Jana Ledvinovâa | ||
| Clinically relevant examples of genotype-phenotype correlation / Gheona Altarescu | ||
| Laboratory diagnosis of Fabry disease / Bryan Winchester and Elisabeth Young | ||
| Biomarkers for Fabry disease / Johannes M.F.G. Aerts | ||
| Fabry disease case finding studies in high-risk populations / Gere Sunder-Plassmann and Manuela Fèodinger | ||
| Small molecule drug discovery for Fabry disease / Omid Motabar ... [et al.] | ||
| Clinical manifestations of Fabry disease : an overview / Atul Mehta | ||
| The heart in Fabry disease : from pathogenesis to enzyme replacement therapy / Christoph Kampmann and Aleés Linhart | ||
| Renal manifestations of Fabry disease / David G. Warnock ... [et al.] | ||
| Neurological manifestations in Fabry disease / Arndt Rolfs ... [et al.] | ||
| Dermatological manifestations of Fabry disease / Catherine H. Orteu | ||
| Histopathology of skin in Fabry disease / Carmen Navarro ... [et al.] | ||
| Bone and muscle involvement in Fabry disease / Dominique P. Germain | ||
| The eye in Fabry disease / Andrea Sodi | ||
| Pulmonary, ear and less commonly appreciated manifestations / Julian A.J. Raiman and Joe T.R. Clarke | ||
| Neuropsychiatric manifestations of AFD / Perri Segal and Annick Raas-Rothschild | ||
| Genetic counseling and psychosocial issues for individuals and their families with Fabry disease / Robin L. Bennett | ||
| Fabry disease in females / D.A. Hughes | ||
| Fabry disease in pediatric patients / Maryam Banikazemi | ||
| Experimental studies in mice on the vasculopathy of Fabry disease / James A. Shayman | ||
| Overview / Michael Beck | ||
| Agalsidase alfa in the treatment of Anderson-Fabry disease / Gregory M. Pastores | ||
| Agalsidase beta clinical trials and long term experience / Carlos E. Prada and Robert J. Hopkin | ||
| Analyses of agalsidase alfa and agalsidase beta for the treatment of Fabry disease / T. Andrew Burrow and Gregory A. Grabowski | ||
| Enzyme replacement therapy in children with Fabry disease / Uma Ramaswami | ||
| Pharmacological chaperone therapy for Fabry disease / Jian-Qiang Fan and Satoshi Ishii | ||
| Potential factors influencing treatment outcomes / G.E. Linthorst and C.E.M. Hollak | ||
| Symptomatic and ancillary therapy / Catharina Whybra-Trèumpler | ||
| The price of care versus the cost of caring / Joe T.R. Clarke | ||
| Fabry disease, a uniquely different lysosomal storage disorder / Deborah Elstein. |
