Ectodermal Dysplasia Society

site URL - http://www.ectodermaldysplasia.org/

Site description: Information about the organization as well as the ED condition. Includes links, news articles and contact details.




Topic: Top/Health/Conditions_and_Diseases/Genetic_Disorders/Ectodermal_Dysplasia

LINKURI & TITLEDESCRIPTION & TOPIC
Previous 10MCW Healthlinkhttp://healthlink.mcw.edu/article/921991711.html MCW HealthlinkTop/Health/Conditions_and_Diseases/Genetic_Disorders/Zellweger_Syndrome An article about Zellweger syndrome, explaining what it is, the symptoms and prognosis.
PreviousNational Foundation for Ectodermal Dysplasiahttp://www.nfed.org/ National Foundation for Ectodermal DysplasiaTop/Health/Conditions_and_Diseases/Genetic_Disorders/Ectodermal_Dysplasia ED organization based in North America offering information/advice to individuals and supporting scientific research. Includes a newsletter, publications, FAQs and a list of services.
Random 1Lautz Materiaishttp://www.lautz.com.br Lautz MateriaisTop/World/Português/Saúde/Medicina_Alternativa Loja virtual Lautz, centenas de produtos relacionados a Medicina Tradicional Chinesa e Terapias Alternativas.
Random 2GeezerSqueezer Incontinece Controlhttp://www.geezersqueezer.com GeezerSqueezer Incontinece ControlTop/Shopping/Health/Conditions_and_Diseases/Incontinence Information, including FAQs about this product. Also ordering instructions.
Random 3Tinnitus Association of Canadahttp://www.kadis.com/ta/tinnitus.htm Tinnitus Association of CanadaTop/Health/Conditions_and_Diseases/Ear,_Nose_and_Throat/Ear/Tinnitus A Canada-based non-profit organization, operated on a voluntary basis by people who have tinnitus.
Random 4Braun International Ltdhttp://www.netcomuk.co.uk/~deville/medical.html Braun International LtdTop/Regional/Europe/United_Kingdom/England/Lincolnshire/Barton_on_Humber/Business_and_Economy Manufacturers of medical equipment. Company profile and product information.
Random 5orange47http://www.orange47.republika.pl orange47Top/World/Polska/Regionalne/Małopolska/Kraków/Społeczeństwo/Ludzie Materiały przydatne podczas studiowania medycyny na Collgium Medicum UJ.
NextPXE Internationalhttp://pxe.org PXE InternationalTop/Health/Conditions_and_Diseases/Genetic_Disorders/Pseudoxanthoma_Elasticum The comprehensive source for pseudoxanthoma elasticum research and world wide activities.
Next 10Costello Kidshttp://www.costellokids.co.uk/ Costello KidsTop/Health/Conditions_and_Diseases/Genetic_Disorders/Costello_Syndrome Official site of the International Costello Syndrome Support Group. Includes medical information, photographs and videos, therapy ideas, news, and links.
Random 1Fredi Walkerhttp://www.geocities.com/Broadway/9596/fredi.html Fredi WalkerTop/Arts/Performing_Arts/Theatre/Musicals/R/Rent/Performers a complete fredi walker worship page
Random 4MedicItalia.it: il motore di ricerca dei medici italianihttp://www.medicitalia.it MedicItalia.it: il motore di ricerca dei medici italianiTop/World/Italiano/Salute/Medicina Propone consulti online e ricerca nelle risorse mediche disponibili; servizi ai medici iscritti. Iscrizione gratuita.
Random 4History of Classical Dance from South Indiahttp://kpoursine.web.wesleyan.edu/bhhist.htm History of Classical Dance from South IndiaTop/Arts/Performing_Arts/Dance/Classical_Indian/Origins A Brief History.
Next 70National Library of Medicinehttp://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Pallister-Killian+syndrome&field=name National Library of MedicineTop/Health/Conditions_and_Diseases/Genetic_Disorders/Pallister_Killian_Mosaic_Syndrome The synonyms of Killian syndrome, a summary and a list of major features.
Previous 70XXXXY Syndromehttp://www.xxxxysyndrome.com XXXXY SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages Information on this rare chromosomal abnormality.
Next 170What is Seasonal Allergic Conjunctivitis?http://www.contactlenses.co.uk/education/public/seasonal_allergic_conjunctivitis.htm What is Seasonal Allergic Conjunctivitis?Top/Health/Conditions_and_Diseases/Eye_Disorders/Conjunctivitis Guide to allergic conjunctivitis for the public.
Previous 170Links on Hemochromatosishttp://hemochromatose.tripod.com Links on HemochromatosisTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis A collection of links to sites, including scientific articles, related to the genetic iron overload disease.
Next 270
Previous 270Crista Lint-Kloppenburghttp://www.lintje.com/cfeng.htm Crista Lint-KloppenburgTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages Site by a Dutch woman with Cystic Fibrosis.
Other resource N0 Chunka Bearhttp://www.geocities.com/chunka_bear/ Chunka BearTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages site for boy with CF
Other resource N1 Sandy Cochranhttp://www.geocities.com/HotSprings/Villa/9559/ Sandy CochranTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages Site by a woman with CF - includes information on the disease.
Other resource N2 Kate McCloughan Krzyzakhttp://www.princesskatherine.net/ Kate McCloughan KrzyzakTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages/Memorials Obituary site.
Other resource N3 In Memory of April...http://hometown.aol.com/ILuv2SkiCO/April.html In Memory of April...Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages/Memorials Memorial for a young woman who lost her life to CF after a lung transplant.
Other resource N4 The Three Of Us - a cf novelhttp://members.aol.com/elsa22/three.html The Three Of Us - a cf novelTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages/Memorials This novel is dedicated to the memory of Jason Merz, Heather Carpenter, and Passha Cline. May their childhood friends always remember them.
Other resource N5 Sara Bagleyhttp://www.saramarie.friendpages.com/ Sara BagleyTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Personal_Pages/Post_Transplant Story of a woman with CF who underwent a lung transplant.
Other resource N6 The Cystic Fibrosis Center at Stanfordhttp://cfcenter.stanford.edu/ The Cystic Fibrosis Center at StanfordTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Medical_Facilities Information on services provided, ongoing clinical trials, news from and about individuals with CF and basic information.
Other resource N7 The Cystic Fibrosis Center at Rush Children's Hospitalhttp://www.rush.edu/patients/children/services/specialties/cysticfibrosis/ The Cystic Fibrosis Center at Rush Children's HospitalTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Medical_Facilities Offers a state-of-the-art multidisciplinary team approach to the care and treatment of infants, children, adolescents and adults with cystic fibrosis.
Other resource N8 South Dakota Cystic FibrosisCenterhttp://med.usd.edu/sdcfc/ South Dakota Cystic FibrosisCenterTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Medical_Facilities Information on South Dakota CF Center in Sioux Falls.
Other resource N9 Lucile Packard Children's Hospital Pulmonary Care and Cystic Fibrosis Center - Stanfordhttp://www.lpch.org/clinicalSpecialtiesServices/COE/PulmonaryCareCF/overview.html Lucile Packard Children's Hospital Pulmonary Care and Cystic Fibrosis Center - StanfordTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Medical_Facilities Information on location, staff, programs, research and other resources.
Other resource N10 Cystic Fibrosis Message Boardhttp://www.healthboards.com/cystic-fibrosis/ Cystic Fibrosis Message BoardTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Support_Groups Forum for support, and to discuss information, concerns, and treatment options.
Other resource N11 International Cystic Fibrosis Support Grouphttp://cf.conncoll.edu/ International Cystic Fibrosis Support GroupTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Support_Groups Purpose is to disseminate information concerning Cystic Fibrosis, to give support to those involved with the disease, to provide a forum for the discussion of topics relative to Cystic Fibrosis, to give the members the opportunity to have an exchange of their ideas and interests not directly related to Cystic Fibrosis, and to provide contact with others who have or have an interest in Cystic Fibrosis.
Other resource N12 CFTR Review Pagehttp://opal.msu.montana.edu/cftr CFTR Review PageTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/CFTR_and_Genetic_Mutations A website about CFTR, the protein involved in cystic fibrosis.
Other resource N13 Protein Structure of CFTR Unravelledhttp://www.lbl.gov/Science-Articles/Archive/abc-cystic-fibrosis.html Protein Structure of CFTR UnravelledTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/CFTR_and_Genetic_Mutations Scientists have obtained their first three-dimensional look at a member of a large family of proteins that play a central role in the development of cystic fibrosis, can block the therapeutic effects of medications, and are also involved in a wide range of vital biological processes. The structure of this representative protein was solved by a team at the U.S. Department of Energy's Lawrence Berkeley National Laboratory (Berkeley Lab) and the University of California at Berkeley (UCB).
Other resource N14 HHCS Health Carehttp://www.hhcs.com/Default.htm HHCS Health CareTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Pharmaceuticals_and_Supplies Cystic Fibrosis Services, pharmacy for cystic fibrosis.
Other resource N15 Cystic Fibrosis WebRinghttp://azcowboy88.tripod.com/welcome/ Cystic Fibrosis WebRingTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Web_Rings Connects over 50 websites. All sites contain information about Cystic Fibrosis and personal experiences of people living with CF.
Other resource N16 Cystic Fibrosis Genetic Testinghttp://www.phd.msu.edu/DNA/cf_fact.html Cystic Fibrosis Genetic TestingTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Testing/Genetic Features testing details, patient information, and physician's guide.
Other resource N17 Sweat Testhttp://www.kidshealth.org/parent/general/sick/sweat_test.html Sweat TestTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Testing/Diagnostic A short fact sheet for parents. Explains how this test is performed and how it's used to diagnose cystic fibrosis.
Other resource N18 European Cystic Fibrosis Societyhttp://www.ecfsoc.org/ European Cystic Fibrosis SocietyTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations ECFS, aims to achieve the best possible treatment and the highest quality of life for the patient with cystic fibrosis by the development and distribution of knowledge in the field of cystic fibrosis
Other resource N19 Cystic Fibrosis Victoria Inchttp://www.cfv.org.au Cystic Fibrosis Victoria IncTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Information about Cystic Fibrosis and the organisation, online chat room and message board.
Other resource N20 Cochrane Cystic Fibrosis & Genetic Disorders Review Grouphttp://www.liv.ac.uk/CFGD/ Cochrane Cystic Fibrosis & Genetic Disorders Review GroupTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations An international network of health care professionals, researchers and consumers preparing, maintaining, and disseminating systematic reviews of randomised control trials in the treatment of cystic fibrosis and other genetic disorders.
Other resource N21 Canadian Cystic Fibrosis Foundationhttp://www.cysticfibrosis.ca/ Canadian Cystic Fibrosis FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Support and resources. Located in Toronto, Ontario.
Other resource N22 Dream Holidays Charityhttp://www.cfdreamholidays.com/ Dream Holidays CharityTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations The Dream Holidays Charity helps families who have a child with Cystic Fibrosis, a genetic life threatening disease. We arrange holidays and wishes for these children with no cost to the family.
Other resource N23 Reaching Out Foundationhttp://www.reachingoutfoundation.org/ Reaching Out FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Provides information on the programs provided by this foundation, a personal story of a person with CF who had a double lung transplant, general information on CF, and how you can donate.
Other resource N24 Victoria Chapter, Canadian Cystic Fibrosis Foundationhttp://www.victoriacfchapter.ca/ Victoria Chapter, Canadian Cystic Fibrosis FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations The Victoria Chapter, one of 51 Chapters of the Canadian Cystic Fibrosis Foundation, works to provide a brighter future for every person born with cystic fibrosis. It assists in the quest to find a cure or control for the disease.
Other resource N25 Concerned Friends of Cystic Fibrosis in Israelhttp://www.cfcfisrael.org Concerned Friends of Cystic Fibrosis in IsraelTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Charitable organization that helps families in Israel who have a member suffering from CF. Includes news, medical equipment needed, and donation information.
Other resource N26 Cystic Fibrosis Australiahttp://www.cysticfibrosisaustralia.org.au/ Cystic Fibrosis AustraliaTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Information about the organization and its aims and objectives, CF facts, events, links and contact details.
Other resource N27 Cystic Fibrosis Research Inc.http://www.cfri.org/ Cystic Fibrosis Research Inc.Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Research News about CF research. Site also has a newsletter available.
Other resource N28 Cystic Fibrosis: Gene to Producthttp://wsrv.clas.virginia.edu/~rjh9u/cfmap.html Cystic Fibrosis: Gene to ProductTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Research The most frequently occurring mutation, delta-F508, is a single amino acid deletion in exon 10 which codes for a portion of the first nucleotide binding function (NBF-1) domain of the cystic fibrosis transmembrane conductance regulation protein. A list of other CF mutations is available.
Other resource N29 San Diego Bicarbonate Conference - HCO3 and Cystic Fibrosishttp://hco3-cysticfibrosis.ucsd.edu/index.htm San Diego Bicarbonate Conference - HCO3 and Cystic FibrosisTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Conferences Conference photos, list of speakers and abstracts.
Other resource N30 Iron Overload: Hemosiderosis; Hemochromatosishttp://www.merck.com/pubs/mmanual/section11/chapter128/128a.htm Iron Overload: Hemosiderosis; HemochromatosisTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Merck Manual looks at this disorder, its signs and symptoms, diagnosis and treatment.
Other resource N31 Iron Disorders Institutehttp://www.irondisorders.org/ Iron Disorders InstituteTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Non-profit National Voluntary Health Agency that provides information about disorders of iron such as hemochromatosis.
Other resource N32 CDC: Iron Overload and Hemochromatosishttp://www.cdc.gov/nccdphp/dnpa/hemochromatosis/index.htm CDC: Iron Overload and HemochromatosisTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis The US Centers for Disease Control and Prevention provide reviewed information on hemochromatosis, including screening, information for patients, FAQ and resources.
Other resource N33 Haemochromatosis UKhttp://www.has-ironoverload.co.uk Haemochromatosis UKTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Light hearted and simple terms in explaining the serious disease of haemochromatosis.
Other resource N34 Irish Haemochromatosis Societyhttp://www.haemochromatosis-ir.com/ Irish Haemochromatosis SocietyTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Irish volunteer organisation to support people with haemochromatosis and promote the disease.
Other resource N35 Iron Overload Disorder Support Forumhttp://www.iodforum.net Iron Overload Disorder Support ForumTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Support group for those affected by hemochromatosis
Other resource N36 Joubert Syndromehttp://www.ninds.nih.gov/health_and_medical/disorders/joubert.htm Joubert SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_Syndrome Information sheet compiled by NINDS.
Other resource N37 TheFetus.nethttp://www.thefetus.net/page.php?id=122 TheFetus.netTop/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_Syndrome A detailed look at Joubert Syndrome starting with a definition, etiology, prenatal diagnosis, clinical findings, genetics and prognosis.
Other resource N38 Yahoo Healthhttp://health.yahoo.com/health/dc/000392/0.html Yahoo HealthTop/Health/Conditions_and_Diseases/Genetic_Disorders/Familial_Hypercholesterolemia An overview of familial hypercholesterolemia including, symptoms, treatment and prevention.
Other resource N39 Crigler-Najjar Diseasehttp://it.geocities.com/criglernajjar Crigler-Najjar DiseaseTop/Health/Conditions_and_Diseases/Genetic_Disorders/Crigler-Najjar_Syndrome Bi-lingual site with information and links on this disease.
Other resource N40 Coffin-Lowry Syndrome Foundationhttp://clsfoundation.tripod.com/ Coffin-Lowry Syndrome FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Coffin_Lowry_Syndrome Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation contact details.
Other resource N41 NORD: Coffin Lowry Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Coffin%20Lowry%20Syndrome NORD: Coffin Lowry SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Coffin_Lowry_Syndrome General information about this syndrome, its alternative names and further resources.
Other resource N42 Klinefelter Syndromehttp://www.emedicine.com/PED/topic1252.htm Klinefelter SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Overview and medical information.
Other resource N43 Genetic Org Homehttp://www.genetic.org/ Genetic Org HomeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Information about Klinefelter Syndrome, when it was first discovered, the common characteristics, and treatment.
Other resource N44 XXY Information (Klinefelter Syndrome)http://www.47xxy.org/XXYframe.html XXY Information (Klinefelter Syndrome)Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Medical information, news, and links.
Other resource N45 Yahoo!: XXYListhttp://groups.yahoo.com/group/xxylist Yahoo!: XXYListTop/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome XXY is a genetic anomaly which occurs 1 in 500 in the general population today. Men with this condition usually have Klinefelters Syndrome. Offers joining instructions for this support group.
Other resource N46 BWSN: Beckwith-Wiedemann Syndromehttp://beckwith-wiedemann.org/index.html BWSN: Beckwith-Wiedemann SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome Information about this organization, created for parents, professionals, and others interested in this disease. An invitation to join an email support group.
Other resource N47 National Library of Medicinehttp://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome052.html National Library of MedicineTop/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome weckwith-wiedemann syndrome, a list of synonyms, a summary and a major features.
Other resource N48 Beckwith-Wiedemann Family Chat Forumhttp://groups.yahoo.com/group/bwschat Beckwith-Wiedemann Family Chat ForumTop/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome An international email discussion group promoting the exchange of Beckwith-Wiedemann Syndrome (BWS) related information and support.
Other resource N49 Floating Harbor Syndrome Support Grouphttp://hometown.aol.com/jdswanson Floating Harbor Syndrome Support GroupTop/Health/Conditions_and_Diseases/Genetic_Disorders/Floating-Harbor_Syndrome Provides a description, including a list of symptoms, things to do and links to other resources. Also contact detail.
Other resource N50 Readers Digest Healthhttp://www.rd.com/common/nav/index.jhtml?articleId=8612919 Readers Digest HealthTop/Health/Conditions_and_Diseases/Genetic_Disorders/Floating-Harbor_Syndrome A general discussion about floating harbor syndrome and some resources for further information.
Other resource N51 Family Villagehttp://www.familyvillage.wisc.edu/lib_vonh.htm Family VillageTop/Health/Conditions_and_Diseases/Genetic_Disorders/Von_Hippel-Lindau Links to chat rooms, web sites and information about Von Hippel Lindau's disease.
Other resource N52 Nail Patella Syndrome Worldwidehttp://www.nailpatella.org Nail Patella Syndrome WorldwideTop/Health/Conditions_and_Diseases/Genetic_Disorders/Nail_Patella_Syndrome The home page of Nail-Patella Syndrome Worldwide, the only non-profit serving the needs of people with Nail-Patella Syndrome. Includes information on the syndrome and the work of the organization.
Other resource N53 John Hopkins Medical Institution - NPShttp://www.hopkinsmedicine.org/healthnewsfeed/hnf_839.htm John Hopkins Medical Institution - NPSTop/Health/Conditions_and_Diseases/Genetic_Disorders/Nail_Patella_Syndrome Information about nail patella syndrome, what it is, a look at the gene, and links to resources and support groups.
Other resource N54 Alpha One Foundationhttp://www.alphaone.org Alpha One FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency Information about the organization, research, and news as well as alpha 1-antitrypsin deficiency.
Other resource N55 University of Cambridgehttp://www.cimr.cam.ac.uk/people/profiles/lomas_david_profile.html University of CambridgeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency Laboratory in Cambridge, UK, researching the cause and treatment of alpha1-antitrypsin deficiency.
Other resource N56 Spiderspunhttp://www.spiderspun.net SpiderspunTop/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency A haven for those affected by Alpha-1 Antirypsin Deficiency. Facts, chat rooms, assistance programs, and reference material.
Other resource N57 Pediatric Oncallhttp://www.pediatriconcall.com/fordoctor/diseasesandcondition/alpha1deficiency.asp Pediatric OncallTop/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency Offers a description of alpha–l antitrypsin, including the affects on the liver and how it presents.
Other resource N58 Batten Disease Family Associationhttp://www.bdfauk.freeserve.co.uk/ Batten Disease Family AssociationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Batten Information about the BDFA, which provides supportive, informative, networking for the families, carers and professional giving care to children and adults with this disease in the United Kingdom.
Other resource N59 seeAbility - Juvenile Battens Diseasehttp://www.seeability.org/randd/jboverview.htm seeAbility - Juvenile Battens DiseaseTop/Health/Conditions_and_Diseases/Genetic_Disorders/Batten An in depth article on this disorder, includes the stages of the disease and the symptoms.
Other resource N60 E-Medicine: HAEhttp://www.emedicine.com/derm/topic24.htm E-Medicine: HAETop/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Angioedema An in dept look at hereditary angioedema beginning with an introduction, clinical features, differentials, work up, treatment, medication and follow up.
Other resource N61 Adam.com: An Overviewhttp://www.nlm.nih.gov/medlineplus/ency/article/001456.htm Adam.com: An OverviewTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Angioedema A definition of hereditary angioedema along with a look at the causes, incidence and risk factors.
Other resource N62 Ashly's Skeletal Dysplasiahttp://www.angelfire.com/or2/ashlysworldofwonders/about.html Ashly's Skeletal DysplasiaTop/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages A mom describes her daughters disorder which is thought to be a metabolic disease similar to mucopolysachharisdoses. Also links to other related sites.
Other resource N63 Taryn's World: About Switcheshttp://www.tarynsworld.org/taryn/switches.htm Taryn's World: About SwitchesTop/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages Personal page for kids and parents about genetic disorders, especially mannosidosis.
Other resource N64 XXXXY Syndromehttp://www.xxxxysyndrome.com XXXXY SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages Information on this rare chromosomal abnormality.
Other resource N65 Mowat-Wilsonhttp://www.mowatwilson.org Mowat-WilsonTop/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages Discussion site for mowat-wilson syndrome. Includes a links page, photos, a community page and a discussion area.
Other resource N66 McArdle's Disease Resourceshttp://members.aol.com/itsgumby/ McArdle's Disease ResourcesTop/Health/Conditions_and_Diseases/Genetic_Disorders/McArdle's Information, resources, and contacts for those affected by this disease or any of the glycogen storage diseases.
Other resource N67 MCW Healthlink: Mobius Syndromehttp://healthlink.mcw.edu/article/921441372.html MCW Healthlink: Mobius SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Mobius_Syndrome Details about this disease, including what it is, the causes, symptoms and treatment options.
Other resource N68 Lowe Syndrome Associationhttp://www.lowesyndrome.org Lowe Syndrome AssociationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Lowe_Syndrome Information about this disease and the international organization that deals with it.
Other resource N69 Fatty Oxidation Disordershttp://www.fodsupport.org/ Fatty Oxidation DisordersTop/Health/Conditions_and_Diseases/Genetic_Disorders/Fatty_Oxidation Informational site provides details on newborn screening, on numerous diseases, medical information and support resources such as a newsletter and email List.
Other resource N70 Lchad.comhttp://www.lchad.com Lchad.comTop/Health/Conditions_and_Diseases/Genetic_Disorders/Fatty_Oxidation Support site for families affected by Long-Chain 3 Hydroxyacyl CoA Dehydrogense (LCHAD). Includes profiles of people with LCHAD and general information about the disorder.
Other resource N71 Hemihypertrophyhttp://www.ibis-birthdefects.org/start/hemihype.htm HemihypertrophyTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemihypertrophy A description from International Birth Defects Information Systems.
Other resource N72 Human Genome Mapping Projecthttp://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1095 Human Genome Mapping ProjectTop/Health/Conditions_and_Diseases/Genetic_Disorders/Meckel-Gruber_Syndrome A list of features for meckel-gruber syndrome, also known as dysencephalia splanchocystica.
Other resource N73 NCBI Genes and Diseaseshttp://www.ncbi.nlm.nih.gov/disease/DGS.html NCBI Genes and DiseasesTop/Health/Conditions_and_Diseases/Genetic_Disorders/DiGeorge_Syndrome An article about DiGeorge syndrome with a description, causes, research and treatment.
Other resource N74 22q and You Centerhttp://www.chop.edu/consumer/jsp/division/service.jsp?id=74652 22q and You CenterTop/Health/Conditions_and_Diseases/Genetic_Disorders/DiGeorge_Syndrome Symptoms, diagnosis, and treatment of chromosome 22q11.2 deletion, a genetic disorder associated with DiGeorge, velocardiofacial and other syndromes.
Other resource N75 Incontinentia Pigmentihttp://www.ninds.nih.gov/health_and_medical/disorders/inconpig_doc.htm Incontinentia PigmentiTop/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti Informational sheet compiled by National Institute of Neurological Disorders and Stroke.
Other resource N76 Incontinentia Pigmenti International Foundationhttp://imgen.bcm.tmc.edu/ipif/ Incontinentia Pigmenti International FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti Details about the organization that is dedicated to research into the causes and treatment of this genetic disease. Includes information about the disease, genetics and genes.
Other resource N77 Laurence Moon Bardet Biedl Societyhttp://www.lmbbs.org.uk Laurence Moon Bardet Biedl SocietyTop/Health/Conditions_and_Diseases/Genetic_Disorders/Laurence-Moon_Syndrome Fully accessible site for people with LMBB, their families, friends, carers and interested professionals. Opinions, news, views, research, updates, and contact details.
Other resource N78 Urea Cycle Disordershttp://www.2endure.com Urea Cycle DisordersTop/Health/Conditions_and_Diseases/Genetic_Disorders/Urea_Cycle Information, medical links and a message board. The true story of a one family's struggle with this illness.
Other resource N79 Hereditary Spastic Paraplegiahttp://www.ninds.nih.gov/health_and_medical/disorders/hereditarysp.htm Hereditary Spastic ParaplegiaTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Spastic_Paraplegia HSP information sheet compiled by the National Institute of Neurological Disorders and Stroke.
Other resource N80 MCW Healthlink: HSPhttp://healthlink.mcw.edu/article/921730935.html MCW Healthlink: HSPTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Spastic_Paraplegia An article about hereditary spastic paraplegia, also called familial spastic paralysis.

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