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         Fabrys Disease:     more books (19)
  1. Fabry Disease
  2. Joe Learns About Fabry Disease by Dawn Laney, 2009-09-06
  3. Fabry Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-16
  4. The Official Parent's Sourcebook on Fabry's Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09
  5. Fabry's disease database will facilitate diagnosis.(Clinical Rounds): An article from: Family Practice News by Nancy Walsh, 2004-10-15
  6. First-degree atrioventricular block and restrictive physiology as cardiac manifestations of Fabry's disease. (Case Report).: An article from: Southern Medical Journal by Arnon Blum, Haim Ashkenazi, et all 2003-02-01
  7. Fabry disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Holly, MS, CGC Ishmael, 2005
  8. Enzyme Replacement Resolves Fabry Disease.(Brief Article): An article from: Family Practice News by Mitchel L. Zoler, 2001-03-01
  9. Fabry disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Holly, MS, CGC Ishmael, Rosalyn, MD Carson-Dewitt, 2005
  10. Dainippon Sumitomo Pharma Announces Launch of "Replagal(R) 3.5 mg" for Anderson-Fabry Disease.: An article from: JCN Newswires by Gale Reference Team, 2007-02-15
  11. Genzyme receives broad patent covering gene therapy for Fabry disease.(Brief Article)(Statistical Data Included): An article from: BIOTECH Patent News
  12. European database providing information on fabry's disease.(Clinical Rounds): An article from: Skin & Allergy News by Nancy Walsh, 2005-01-01
  13. The Official Parent's Sourcebook on Fabry's Disease: A Revised and Updated Direc by Icon Health Publications,
  14. Six diagnostic possibilities for painful, red feet. (Different Treatment Options).: An article from: Pediatric News by Betsy Bates, 2003-02-01

1. Fabry's Disease Information Page National Institute Of Neurological
Information sheet on this disease including treatment, prognosis and research.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

2. Cardiac Transplantation For Fabry's Disease
Cardiac transplantation for Fabry's disease WJ Cantor, P Daly, M Iwanochko, JTR Clarke, RJ Cusimano, J Butany
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Fabry's Disease
About this disease its symptoms and possible complications, prognosis and treatment.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Fabrys Disease - Descipher Health
fabrys disease
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Anderson-Fabrys Disease - Patient UK
Andersonfabrys disease - Patient UK. A directory of UK health, disease, illness and related medical websites that provide patient information.
http://www.patient.co.uk/showdoc/40001230/
PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people.
Anderson-Fabry's Disease
Synonym: Fabry's Disease, glycosphingolipid lipidosis, ceramide trihexosidosis This is one of the lysosomal storage diseases. Inheritance X-linked (Xq22) autosomal recessive causing a deficiency in a-galactosidase A - with subsequent accumulation of glycophospholipids in cells. There have been over 100 different mutations of the gene described, and there can be differences in family members, perhaps partly due to different blood group (B or AB more severely affected as the enzyme is involved in the removal of B and AB related glycosphingolipids) Prevalence of classic form is 1:40 000, atypical variant may be more common. Clinical Features There may be a positive family history . Clinical manifestations are mainly due to intralysosomal deposits of a-galactosyl-lactosyl-ceramide (trihexoside) in the endothelial and smooth muscle cells of the blood vessels, and in reticuloendothial histiocytes. Homozygotes (Male) Classical (many systems involved)
  • Onset in childhood or adolescence
  • Acroparaesthesia (attacks of severe burning pain and paraesthesiae in the extremities). They are often precipitated by stress, exposure to the sun or heat, changes in temperature, physical exertion, or fever and illness.

6. Introduction Fabry's Disease - WrongDiagnosis.com
Introduction to Fabry's Disease as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Worldbook Medical Encyclopedia Fabrys Disease - Fused Joint
Worldbook Medical Encyclopedia fabrys disease Fused joint Finger Finger Search the Web with
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Worldbook Medical Encyclopedia Fabrys Disease - Fused Joint
Worldbook Medical Encyclopedia fabrys disease Fused joint Fr hlichs syndrome Fr hlichs syndrome Search the Web with
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Cardiac Transplantation For Fabrys Disease
Cardiac Transplantation for fabrys disease. The Canadian Journal of Cardiology presents and article on this topic.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Worldbook Medical Encyclopedia Fabrys Disease - Fused Joint
Worldbook Medical Encyclopedia fabrys disease Fused joint Foreign body in ear treatment Foreign body in ear treatment
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Fabry's Disease - Health And Medical Information Produced By
Fabry's Disease Index. Meet the Doctors. Site Map. Content Solutions. Find a Therapist by Psychology Today. Free Newsletters
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. The Canadian Society For Mucopolysaccharide Related Diseases Inc.
Profile fabrys disease, Symptoms or effects with a line under them mean that Symptoms and Effects of fabrys disease. All items with information added
http://www.mpssociety.ca/display_diseases.php?uid=23

13. The Canadian Society For Mucopolysaccharide Related Diseases Inc.
Database of Diseases. MUCOPOLYSACCHARIDOSES (MPS). Disease Name, Alternate Name. Hurler Syndrome, MPS IH fabrys disease, Trihexosylceramidosis
http://www.mpssociety.ca/database_of_diseases.php

14. Fabry S Disease
Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes
http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/FABRYS DISEASE.

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our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Fabry's disease, (Johannes Fabry, 18601930, German dermatologist), lysosomal disease of the group of sphingolipidoses clinically characterized by attacks of pain in the extremities and abdomen, triggered by exercise, fatigue and emotional stress. Ocular symptoms with corneal opacities and cataract subsequently appear, as does telangiectasis affecting mainly the inferior limbs. Cardiovascular symptoms appear with increasing age; transient ischaemic attacks, ischaemic infarctions, aneurysm formation, hemiplegia, aphasia, seizures and mental deterioration are part of the neurological picture. The diagnosis is made by demonstrating deficiency of alpha-galactosidase activity in plasma, leukocytes, urine and cultured skin fibroblasts. The basic defect is accumulation of glycosphingolipids in lysosomes. MR shows nonspecific small lacunar infarcts in both the white and grey matter, atrophy and occasional haemorrhages.
GS
The Encyclopaedia of Medical Imaging Volume VI 1
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15. Fabry S Disease
Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes
http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/FABRYS DISEASE

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our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Fabry's disease, (Johannes Fabry, 18601930, German dermatologist), a hereditary X-linked systemic disease, also termed glycosphingolipidosis. It is characterized by deposition of a lipid, ceramide trihexose, in various tissues, sometimes leading to death from renal failure and hypertension in midlife. In addition to skin lesions, renal abnormalities, cardiomegaly and cerebral haemorrhage, patients may exhibit musculoskeletal manifestations; these may include osteonecrosis at many sites and periarticular swellings in elbows, knees and small joints of the fingers.
DR
The Encyclopaedia of Medical Imaging Volume III 1
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16. PC PAL, News Archive 2002
for TKT5S AB for the long term follow up of patients with fabrys disease. on efficacy and safety of enzyme replacement therapy in fabrys disease.
http://www.pcpal.se/html/news_archive_2002.html
Home News About us Contact
PC PALs ADA concept gains acceptance
[2002-11-27] The ADA concept to make growth charts and the data available across different units of Swedish health care gained more supporters after the presentation at the IT conference Vinnande IT/ Winning IT during the largest Swedish health care conference.
PC PAL application to be presented
[2002-11-13] At the upcoming conference Vinnande IT / Winning IT scheduled for Nov 27-28, 2002 for IT within the health care sector PC PALs project ADA will be presented.
The project and its underlying technology provides a novel approach to sharing patient data among different health care systems. The project has focused on sharing data necessary for presenting growth charts across all of the different database systems available within Swedish health care, but it's concept can be applied to other data as well.
www.VinnandeIT.nu
PC PALs growth charts appear in publication
[2002-10-15] The scientific journal Acta Paediatrica recently published an article by Kerstin Albertsson-Wikland and Johan Karlberg of Swedish population-based longitudinal reference values from birth to 18 years of age. The article included four growth charts specifically prepared by PC PAL to illustrate the published data.
Since 2000 the growth charts designed by PC PAL are used as a national standard for height, weight, head circumference and body mass index (BMI) in Swedish health care institutions.

17. Dermatology Digital Image Bank
exanthem viral extramammary pagets fabrys disease fabrys disease close fabrys disease histology fabrys disease scrotum fibroepithelial polyp
http://www.dermatoloji.com/site/imagebank/atl.html
  • 691 IMAGES
abscess acanthosis nigricans acanthosis plus contact acne cyst ... zoster in cl

18. Entrez PubMed
Madrid. Spain. monlr2001@hotmail.com Publication Types Review Review, Tutorial MeSH Terms Fabry Disease/diagnosis Fabry Disease/pathology*
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

19. Rare Heart Condition
Topics fabrys disease,pectus, lung, mitral. MY son is 8 years old with fabry s disease so he has a heart murmur well he also has pectus excavatum. when
http://www.medhelp.org/forums/cardio/messages/34452.html
Questions in The Heart Forum are being answered by doctors from The Cleveland Clinic Heart Center, consistently ranked the #1 Heart Center in America.
rare heart condition
Forum: The Heart Forum
Topic: Misc.
Subject: rare heart condition
From To Post joshcodyalex
MY son is 8 years old with fabry's disease so he has a heart murmur well he also has pectus excavatum. when he went to the the heart doctor the did an ultra sound which indicated he has a heart valve connected to his lung and I was wonder if the pectus excavtum would cause this by pushing his heart and lung together and should I seek a second opinion on this. I'm very worried about this. thank you joshua's mom CCF-M.D.-RCJ
joshcodyalex joshcodyalex,
Thanks for the post.
Fabrys disease is associated with mitral regurgitation and aortic stenosis. I'm not familiar with pectus excavatum being a manifestation of Fabrys, but pectus excavatum is also associated with mitral valve prolapse/regurgitation.
As to what the doctor meant by "heart valve connected to his lung", I can't imagine what that means. I suspect that he/she misspoke, or that you misunderstood.
If you liked the doctor and trust him/her, then return to them for a more complete explanation. A lot of people become so upset upon hearing about any problem, that they are unable to process the explanations offered after the initial diagnosis. If you didn't care for the doctor, or are concerned about his/her expertise, then by all means, seek a second opinion.

20. Encyclopedia: List Of Neurological Disorders
fabrys disease Wikipedia /**/ @import /skins/monobook/IE50Fixes. Fahr’s Syndrome is a rare, genetically dominant, inherited neurological disorder
http://www.nationmaster.com/encyclopedia/List-of-neurological-disorders

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    Encyclopedia: List of neurological disorders
    Updated 54 days 15 hours 17 minutes ago. Other descriptions of List of neurological disorders This is a list of major and frequently observed neurological disorders (e.g. Alzheimer's disease ), symptoms (e.g. back pain ), signs (e.g. aphasia ) and syndromes (e.g. Aicardi syndrome Neurology is a branch of medicine dealing with disorders of the central and peripheral nervous systems. ... Back pain is pain felt in the back that may come from the spine, muscles, nerves, or other structures in the back. ... Aphasia is a loss or impairment of the ability to produce or comprehend language, due to brain damage. ...

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