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ataxie-teleangiectasieën - progressieve neurologische aandoening met kleine verwijde bloedvaten op de huid
Definitie voor ataxie-teleangiectasieën
Telangiectasias are small, red 'spider' veins. These typically appear on the surface of the ears and cheeks or in the corners of the eyes in patients with AT.
meer
Telangiectasias are small, red 'spider' veins. These typically appear on the surface of the ears and cheeks or in the corners of the eyes in patients with AT. The 'ataxia' part of the name refers to the difficulty patients with AT have walking. At early age, the child's walking becomes wobbley, at teens handicapped-bound and at the early 20s, it becomes fatal.
less
enkele veel voorkomende symptomen
abnormale gang
verwijde bloedvaten in meerdere gebieden
slechte coördinatie
rode ogen
sommige gerelateerde diagnoses
1 - 4 of
4
diagnoses
drugs en toxinen
systemische lupus erythematosis
Von Hippel Lindau ziekte
tubereuze sclerose
meer
heb ik 'ataxie-teleangiectasieën'?
Bovendien moeten de volgende diagnostische tests kunnen worden moeten helpen controleren of de diagnose:
diagnostische test zoekresultaten voor 'ataxie-teleangiectasieën'
1 - 5 of
34
diagnostische tests
Carcinoembryonic Antigen CEA
ataxie-teleangiectasieën en Carcinoembryonic Antigen CEA
Moleculair genetische studies
ataxie-teleangiectasieën en Moleculair genetische studies
Serum alfa-foetoproteïne AFP
ataxie-teleangiectasieën en Serum alfa-foetoproteïne AFP
Aantal T-cellen
ataxie-teleangiectasieën en Aantal T-cellen
T-cel functie
ataxie-teleangiectasieën en T-cel functie
Bloed, bloedplaatjes
Platelet Count
ataxie-teleangiectasieën en Bloed, bloedplaatjes
MRI van de hersenen
ataxie-teleangiectasieën en MRI van de hersenen
X-thorax
Radiological technique to image the chest
ataxie-teleangiectasieën en X-thorax
Complete bloedbeeld
ataxie-teleangiectasieën en Complete bloedbeeld
EEG - Elektro
ataxie-teleangiectasieën en EEG - Elektro
serum IgG
ataxie-teleangiectasieën en serum IgG
serum IgG-subklassen
ataxie-teleangiectasieën en serum IgG-subklassen
serum IgM
ataxie-teleangiectasieën en serum IgM
serum immunoglobulinen
ataxie-teleangiectasieën en serum immunoglobulinen
Serum IgA
ataxie-teleangiectasieën en Serum IgA
Serum-IgE
ataxie-teleangiectasieën en Serum-IgE
Elektromyogram EMG
ataxie-teleangiectasieën en Elektromyogram EMG
Zenuwgeleidingsonderzoek NCS
ataxie-teleangiectasieën en Zenuwgeleidingsonderzoek NCS
B-cellen
ataxie-teleangiectasieën en B-cellen
B-cel functie
ataxie-teleangiectasieën en B-cel functie
Chromosomale analyse
ataxie-teleangiectasieën en Chromosomale analyse
ECG
Electrocardiogram
ataxie-teleangiectasieën en ECG
Glucosetolerantietest
A test for diabetes
ataxie-teleangiectasieën en Glucosetolerantietest
Urineonderzoek
Examination of urine to detect disease
ataxie-teleangiectasieën en Urineonderzoek
Complementatie analyse
ataxie-teleangiectasieën en Complementatie analyse
DNA reparatie studies
ataxie-teleangiectasieën en DNA reparatie studies
IR en RDS gevoeligheidsanalyse
ataxie-teleangiectasieën en IR en RDS gevoeligheidsanalyse
Immunoelectrophoresis
ataxie-teleangiectasieën en Immunoelectrophoresis
Saccade test
ataxie-teleangiectasieën en Saccade test
T-cel responsen op mitogene stimulatie
ataxie-teleangiectasieën en T-cel responsen op mitogene stimulatie
T-cel subsets CD3, CD4, CD8
ataxie-teleangiectasieën en T-cel subsets CD3, CD4, CD8
chromosomale breuken studies
ataxie-teleangiectasieën en chromosomale breuken studies
chromosomaal abnormale T-cel kloon
ataxie-teleangiectasieën en chromosomaal abnormale T-cel kloon
diepoxybutane DEB stimulatie
ataxie-teleangiectasieën en diepoxybutane DEB stimulatie
voor meer kunt u inloggen, aanmelden is gratis (klik om in te loggen)
therapeutische procedures voor 'ataxie-teleangiectasieën'?
Beheren of de behandeling van een ziekte moet altijd worden bepaald door een patiënten zorgverstrekker. Hieronder is een lijst van de bijbehorende procedures of therapeutische medicijnen voor ataxia-telangiectasia:
therapeutische procedure zoekresultaten voor 'ataxie-teleangiectasieën'
1 - 3 of
3
therapeutische procedures
rankings zijn computer gegenereerd. raadpleeg uw zorgverlener.
Fysieke en bezigheidstherapie
Arthritis Physical and Occupational Therapy
ataxie-teleangiectasieën en Fysieke en bezigheidstherapie
Hematopoietische stamceltransplantatie
ataxie-teleangiectasieën en Hematopoietische stamceltransplantatie
Histocompatibility testen
ataxie-teleangiectasieën en Histocompatibility testen
medicatie zoekresultaten voor 'ataxie-teleangiectasieën'
rankings zijn computer gegenereerd. raadpleeg uw zorgverlener.
zoekresultaten voor ataxie-teleangiectasieën
Web (Alle)
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Drugs
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Resultaten
1 - 50
- AT
Ataxia-telangiectasia - Genetics Home Reference
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Ataxia-telangiectasia is a rare inherited ... Mutations in the ATM gene cause ataxia-telangiectasia. ... MedlinePlus Encyclopedia: Ataxia-telangiectasia ...
http://ghr.nlm.nih.gov/condition=ataxiatelangiectasia
ghr.nlm.nih.gov
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Ataxia-Telangiectasia: Immunodeficiency Disorders: Merck Manual Home ...
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Introduction·Ataxia-Telangiectasia· Chronic Granulomatous Disease· Chronic ... Ataxia-telangiectasia usually progresses to paralysis, dementia, and death, ...
http://www.merck.com/mmhe/sec16/ch184/ch184b.html
www.merck.com
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Ataxia-Telangiectasia -- GeneReviews -- NCBI Bookshelf
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ATM (ataxia-telangiectasia mutated) is the only gene known to be associated with ... Establishing the diagnosis of ataxia-telangiectasia is most difficult in very ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ataxia-telangiectas
www.ncbi.nlm.nih.gov
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Ataxia-Telangiectasia
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Ataxia-telangiectasia (A-T) is characterized by progressive ... Establishing the diagnosis of ataxia-telangiectasia is most difficult in very young children, ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Ataxia-Telangiectasia: Immunodeficiency Disorders: Merck Manual Home ...
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Ataxia-telangiectasia is a hereditary disorder characterized by incoordination, ... Ataxia-telangiectasia usually progresses to paralysis, dementia, and death, ...
http://www.merck.com/mmhe/print/sec16/ch184/ch184b.html
www.merck.com
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Ataxia-Telangiectasia: Immunodeficiency Disorders: Merck Manual ...
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... With Suspected Immunodeficiency·Ataxia-Telangiectasia· Chédiak-Higashi Syndrome ... Ataxia-telangiectasia results from a T-cell defect and causes progressive ...
http://www.merck.com/mmpe/sec13/ch164/ch164c.html
www.merck.com
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Mortality rates among carriers of ataxia-telangiectasia mutant alleles.
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BACKGROUND: Mutations at the ataxia-telangiectasia locus cause a distinctive ... PARTICIPANTS: 405 grandparents of patients with ataxia-telangiectasia. ...
http://www.ncbi.nlm.nih.gov/pubmed/11085839?dopt=Citation
www.ncbi.nlm.nih.gov
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Ataxia-telangiectasia - References - Genetics Home Reference
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Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst) ... Hall J. The Ataxia-telangiectasia mutated gene and breast cancer: gene ...
http://ghr.nlm.nih.gov/condition=ataxiatelangiectasia/show/References
ghr.nlm.nih.gov
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Ataxia-Telangiectasia: Immunodeficiency Disorders: Merck Manual ...
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Immunology; Allergic Disorders. Subject. Immunodeficiency Disorders. Ataxia-Telangiectasia. Ataxia-telangiectasia results from a T-cell defect and causes progressive ...
http://www.merck.com/mmpe/print/sec13/ch164/ch164c.html
www.merck.com
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Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 ...
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Ataxia-telangiectasia is a multisystem disorder characterized by progressive ... The incidence of ataxia-telangiectasia in Iran is high, possibly due to familial ...
http://www.ncbi.nlm.nih.gov/pubmed/17628218
www.ncbi.nlm.nih.gov
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Ataxia Telangiectasia Information Page: National Institute of ...
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Ataxia telangiectasia (A-T) information page compiled by the National Institute of Neurological Disorders and Stroke (NINDS) ... for Ataxia-Telangiectasia ...
http://www.ninds.nih.gov/disorders/a_t/a-t.htm
www.ninds.nih.gov
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MedlinePlus: Ataxia Telangiectasia
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Ataxia Telangiectasia(National Institute of Neurological Disorders and ... Home Reference: Ataxia-telangiectasia(National Library ... Ataxia ...
http://www.nlm.nih.gov/medlineplus/ataxiatelangiectasia.html
www.nlm.nih.gov
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summary
Ataxia-telangiectasia or Louis-Bar syndrome.
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Ataxia-telangiectasia or Louis-Bar syndrome. Smith LL, Conerly SL. Ataxia-telangiectasia (A-T) is a clinical syndrome that commonly shows ...
http://www.ncbi.nlm.nih.gov/pubmed/2580869
www.ncbi.nlm.nih.gov
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Ataxia - telangiectasia
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Ataxia-telangiectasia is inherited, which means it is passed down through families. ... Ataxia Telangiectasia Children's Project - www.atcp.org ...
http://adam.about.com/encyclopedia/infectiousdiseases/Ataxia-telangiectasia.htm
adam.about.com
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MedlinePlus Medical Encyclopedia: Ataxia - telangiectasia
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Ataxia-telangiectasia is inherited, which means it is passed down through families. ... Ataxia Telangiectasia Children's Project - www.atcp.org ...
http://www.nlm.nih.gov/medlineplus/ency/article/001394.htm
www.nlm.nih.gov
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Ataxia Telangiectasia
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Important It is possible that the main title of the report Ataxia Telangiectasia is not the name you expected. Please check the synonyms listing to find the ...
http://www.webmd.com/brain/ataxia-telangiectasia
www.webmd.com
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ATM - ataxia telangiectasia mutated - Genetics Home Reference
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The official name of this gene is "ataxia telangiectasia mutated. ... ataxia-telangiectasia - caused by mutations in the ATM gene ...
http://ghr.nlm.nih.gov/gene=atm
ghr.nlm.nih.gov
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Nuclear protein, ataxia-telangiectasia locus (NPAT)
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Human protein-coding gene NPAT. Represented by 139 ESTs from 83 cDNA libraries. ... Homo sapiens nuclear protein, ataxia-telangiectasia locus, mRNA (cDNA clone ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=171061
www.ncbi.nlm.nih.gov
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Ataxia Telangiectasia - Yahoo! Health
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Important It is possible that the main title of the report Ataxia Telangiectasia is not the name you expected. Please check the synonyms listing to find the ...
http://health.yahoo.com/other-other/ataxia-telangiectasia/he...
health.yahoo.com
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MedlinePlus Enciclopedia Médica: Ataxia-telangiectasia
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Ataxia se refiere a movimientos descoordinados, como caminar, y telangiectasia ... La ataxia-telangiectasia es hereditaria, lo cual significa que se trasmite de ...
http://www.nlm.nih.gov/medlineplus/spanish/ency/article/001394.htm
www.nlm.nih.gov
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ATAXIA-TELANGIECTASIA - Pedbase.org
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PEDBASE.org - The Pediatric Database - Detailed information of ATAXIA-TELANGIECTASIA ... Pedbase.org. Powered by Database of Pediatrics- ATAXIA-TELANGIECTASIA ...
http://pedbase.org/a/ataxia-telangiectasia/
pedbase.org
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Ataxia - telangiectasia
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Ataxia-telangiectasia is an inherited disorder that affects many tissues and ... A B C D E F G H I J K L M N O P Q R S T U V W X Y Z. Ataxia - telangiectasia ...
http://adam.about.com/encyclopedia/001394sym.htm
adam.about.com
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Ataxia Telangiectasia
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Ataxia telangiectasia (A-T) is a rare, progressive, neurodegenerative childhood ... Ataxia Telangiectasia (A-T) Children's Project. 668 South Military Trail ...
http://my.clevelandclinic.org/disorders/Ataxia_Telangiectasi...
my.clevelandclinic.org
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Ataxia Telangiectasia Press Releases: National Institute of ...
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Ataxia telangiectasia (A-T) information page compiled by the National Institute of Neurological Disorders ... Home " Disorders A - Z " Ataxia Telangiectasia " ...
http://www.ninds.nih.gov/disorders/a_t/press_a-t.htm
www.ninds.nih.gov
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Health Library - Avera Health
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Ataxia-telangiectasia is inherited, which means it is passed down through families. ... Ataxia Telangiectasia Children's Project - www.atcp.org ...
http://averaorg.adam.com/content.aspx?productId=101&pid=1&gid=001394
averaorg.adam.com
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Selective Immunoglobulin Deficiency: Immunodeficiency Disorders: Merck ...
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Introduction· Ataxia-Telangiectasia· Chronic Granulomatous Disease· Chronic ... ataxia-telangiectasia. candidiasis. cutaneous. granuloma. granulomatous ...
http://www.merck.com/mmhe/sec16/ch184/ch184h.html
www.merck.com
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Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page ...
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Ataxias and Cerebellar/Spinocerebellar Degeneration information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS)
http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm
www.ninds.nih.gov
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Blood/lymphatic system - Genetics Home Reference
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A-T see ataxia-telangiectasia. abetalipoproteinemia. acanthocytosis see ... Louis-Bar syndrome see ataxia-telangiectasia. lymphedema-distichiasis syndrome ...
http://ghr.nlm.nih.gov/conditionCategory=bloodlymphaticsystem
ghr.nlm.nih.gov
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Orphanet: Ataxia telangiectasia
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The portal for rare diseases ... Ataxia-telangiectasia. Orpha number. ORPHA100. Prevalence of rare ... Ataxia-Telangiectasia (A-T) is the association of ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=100
www.orpha.net
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Coordination Disorders: Movement Disorders: Merck Manual Home Edition
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ataxia-telangiectasia. athetosis. atrophy. cerebellum ... Friedreich's ataxia. hemorrhage. hypothyroidism. myoclonus. phenytoin. sclerosis. telangiectasia ...
http://www.merck.com/mmhe/sec06/ch091/ch091k.html
www.merck.com
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Skin, hair, and nails - Genetics Home Reference
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A-T see ataxia-telangiectasia. AAT see alpha-1 antitrypsin deficiency ... Louis-Bar syndrome see ataxia-telangiectasia ... see ataxia-telangiectasia ...
http://ghr.nlm.nih.gov/conditionCategory=skinhairandnails
ghr.nlm.nih.gov
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[Ataxia telangiectasia (Louis-Bar syndrome)]
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1: Riv Neurol. 1977 Jan-Feb;47(1):41-57. [Ataxia telangiectasia (Louis-Bar syndrome) ... relate on a case of ataxia-telangiectasia, where appeared all the signs of ...
http://www.ncbi.nlm.nih.gov/pubmed/323953
www.ncbi.nlm.nih.gov
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Ataxia Telangiectasia (A-T) Children's Project: National Institute of ...
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Ataxia Telangiectasia (A-T) Children's Project. 668 South Military Trail ... at finding a cure for ataxia telangiectasia, a lethal childhood genetic disease. ...
http://www.ninds.nih.gov/find_people/voluntary_orgs/volorg16.htm
www.ninds.nih.gov
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MedlinePlus Medical Encyclopedia: Movement - uncoordinated
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Paraneoplastic syndromes (ataxia may appear months or years before cancer is ... cerebellar ataxia, Friedreich's ataxia, ataxia telangiectasia, Wilson's disease) ...
http://www.nlm.nih.gov/medlineplus/ency/article/003198.htm
www.nlm.nih.gov
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Ataxia telangiectasia - Wikipedia, the free encyclopedia
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"Ataxia-telangiectasia: eMedicine Ophthalmology" ... A single Ataxia-Telangiectasia gene with a product similar to PI-3 kinase" ...
http://en.wikipedia.org/wiki/Ataxia_telangiectasia
en.wikipedia.org
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Ataxia telangiectasia
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Genes and Disease provides an introduction to the relationship between genetic factors and human disease with a summary of ~60 genetic diseases with links to related ...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..Show...
www.ncbi.nlm.nih.gov
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MedlinePlus Medical Encyclopedia: Telangiectasia
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Ataxia - telangiectasia. Bloom syndrome. Cutis marmorata telangiectatica congenita. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) ...
http://www.nlm.nih.gov/medlineplus/ency/article/003284.htm
www.nlm.nih.gov
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Introduction: Immunodeficiency Disorders: Merck Manual Home Edition
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Introduction· Ataxia-Telangiectasia· Chronic Granulomatous Disease· Chronic ... ataxia-telangiectasia. azathioprine. candidiasis. carbamazepine. chronic ...
http://www.merck.com/mmhe/sec16/ch184/ch184a.html
www.merck.com
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Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ...
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Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, ... oculocutaneous telangiectasia and frequent pulmonary infection. BODER E, ...
http://www.ncbi.nlm.nih.gov/pubmed/13542097
www.ncbi.nlm.nih.gov
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PMID 3239952
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Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. ... signs were indistinguishable from those of ataxia-telangiectasia, the ...
http://www.ncbi.nlm.nih.gov/pubmed/3239952
www.ncbi.nlm.nih.gov
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Immune system - Genetics Home Reference
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A-T see ataxia-telangiectasia. ADA deficiency see adenosine deaminase deficiency ... Louis-Bar syndrome see ataxia-telangiectasia ...
http://ghr.nlm.nih.gov/conditionCategory=immunesystem
ghr.nlm.nih.gov
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Ataxia: Causes - MayoClinic.com
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Ataxia â?" Comprehensive overview covers causes and treatments for this lack of muscle coordination. ... Ataxia-telangiectasia. ...
http://www.mayoclinic.com/health/ataxia/DS00910/DSECTION=causes
www.mayoclinic.com
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BLOOM SYNDROME - Pedbase.org
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first year (telangiectasia) risk factors: familial - autosomal recessive ... Ataxia-Telangiectasia. Fanconi Anemia. Xeroderma Pigmentosum. 2. Genetic Defect ...
http://pedbase.org/b/bloom-syndrome/
pedbase.org
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Pleiotropic defects in ataxia-telangiectasia protein-deficient mice.
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... generated a mouse model for ataxia-telangiectasia by using gene targeting to ... ataxia telangiectasia mutated protein. Protein-Serine-Threonine Kinases ...
http://www.ncbi.nlm.nih.gov/pubmed/8917548
www.ncbi.nlm.nih.gov
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Tumors Linked to Fetal Stem Cell Transplant - Cancer Information ...
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Information on many different cancers includes symptoms, ... a rare neurodegenerative disease, ataxia telangiectasia, that also weakens the immune system. ...
http://www.medicinenet.com/guide.asp?s=rss&a=97833&k=Brain_Cancer_Specialty
www.medicinenet.com
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Common Variable Immunodeficiency: Immunodeficiency Disorders: Merck ...
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Introduction· Ataxia-Telangiectasia· Chronic Granulomatous Disease· Chronic ... ataxia-telangiectasia. candidiasis. corticosteroid. cutaneous. granuloma ...
http://www.merck.com/mmhe/sec16/ch184/ch184e.html
www.merck.com
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Movement - uncoordinated
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Paraneoplastic syndromes (ataxia may appear months or years before cancer is ... cerebellar ataxia, Friedreich's ataxia, ataxia telangiectasia, Wilson's disease) ...
http://adam.about.com/encyclopedia/Movement-uncoordinated.htm
adam.about.com
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Leukemia and lymphoma in ataxia telangiectasia.
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Leukemia and lymphoma in ataxia telangiectasia. Taylor AM, Metcalfe JA, Thick J, Mak YF. ... Ataxia Telangiectasia/immunology. Child. Child, Preschool ...
http://www.ncbi.nlm.nih.gov/pubmed/8555463
www.ncbi.nlm.nih.gov
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MedlinePlus: Movement Disorders
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Ataxia Telangiectasia. Dystonia. Muscle Disorders. Neuromuscular Disorders. Parkinson's Disease ... Home Reference: Episodic ataxia(National Library of ...
http://www.nlm.nih.gov/medlineplus/movementdisorders.html
www.nlm.nih.gov
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Encyclopedia A-Az on Yahoo! Health
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Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, ... Ataxia. Ataxia Telangiectasia. Ataxia ...
http://health.yahoo.com/health/ency/adam/000821/i9478
health.yahoo.com
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