61. The Original Ring Of Special Needs Children Justin s story of menkes syndrome and contacts and links to the experts. Justin Gordon and menkes syndrome Join Date January 02, 2003 http://www.ringsurf.com/netring?ring=spneed;id=71;action=next5

62. Health Library - Diagnosis and therapy of menkes syndrome, a genetic form of copper deficiency . The failure of parenteral copper therapy in Menkes Kinky hair syndrome. http://yalenewhavenhealth.org/library/healthguide/en-us/Cam/topic.asp?hwid=hn-12

63. Health/Conditions And Diseases/Nutrition And Metabolism Disorders/Vitamins And M menkes syndrome A definition and a look at the epidemiology, pathophysiology, url www.dpo.uab.edu/~birmie/menkes.htm; menkes syndrome Essay http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Nutrition_and

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... Copper And Menkes Disease Explanation of the biochemical and genetic causes of the disease. url: www.research.deakin.edu.au/performance/pubs/report... Friends of Alexander Deihl A non-profit organization established to help children and their families who have been affected by a crippling disorder or are terminally ill. About Menkes' Syndrome with support. url: www.geocities.com/Heartland/Grove/1590/index.html Menkes Disease Medical information including pathophysiology, causes, clinical features, laboratory and histological findings. Also includes images. url: www.emedicine.com/neuro/topic569.htm Menkes Disease An information sheet this disease including treatment and prognosis.

64. 304150 CUTIS LAXA, X-LINKED Possibly it is, like menkes syndrome, a disorder of copper metabolism rather than The possibility that the occipital horn syndrome is allelic to Menkes http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:304150] -e

65. 309400 MENKES DISEASE (1993), represent a new variant of menkes syndrome. Phenotypic overlap betweenmenkes syndrome and the occipital horn syndrome (304150) is to be expected http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:309400] -e

66. McKenzie-Willamette Medical Center - Article.aspx menkes syndrome causes impaired copper absorption. Babies with menkes syndromehave a genetic disorder that causes copper to build up in excess amounts http://www.mckweb.com/apps/HealthGate/Article.aspx?Chunk=22831

67. GeneCard For ATP7A ATP7A (ATPase, Cu++ transporting, alpha polypeptide (menkes syndrome)) Disease defects in atp7a are associated with menkes syndrome (md) mim309400; http://bioinfo.cnio.es/cgi-bin/genecards/carddisp?ATP7A

68. Sitemap | Medical School Chat Medical Students, Pre Med, School, Review, Forum, menkes syndrome inborn error metabolism markedly decreases cells` ability absorbcopper disorder causes severe cerebral degeneration arterial changes http://www.medschoolchat.com/sitemap_978.html

Meningomyelocele Incomplete closure vertebral column embryogenesis resulting exposure meninges spinal cord;Always associated constellation findings known Chiari II malformation include: small posterior fossa hindbrain herniation upper cervical spinal canal dysgenesis agenesis corpus callosum neuronal migration disorders varying degree hydrocephalus;Chiari II abnormality associated myelomeningocele anencephaly encephalocele belong a group disorders known neural tube defects serious congenital anomalies nervous system occur first 4 weeks gestation result faulty formation neural tube.;Post neurulation defects develop 25 days intrauterine life ie neurulation complete;Lesions include simple meningocele lipomyelomeningocele diastematomyelia myelocystocele neurenteric cyst intraspinal pelvic meningoceles;Characterized intact skin over underlying lesion Meniscectomy Surgical removal part a cartilage disk a joint Meniscus A crescent-shaped pad cartilage joints helps reduce friction Menkes syndrome Menkes syndrome inborn error metabolism markedly decreases cells` ability absorb copper disorder causes severe cerebral degeneration arterial changes resulting death infancy disease can often diagnosed looking a victim`s hair appears whitish kinked when viewed under a microscope. Menkes` disease transmitted X-linked recessive trait Sufferers can transport copper needed enzymes involved making bone nerve other structures A number other diseases including type IX Ehlers-Danlos syndrome may result allelic mutations (i.e mutations gene slightly different symptoms) hoped research diseases may prove useful fighting Menkes` disease

69. NSDPath V1.0 menkes syndrome. Home FAQ Contact . Disease, menkes syndrome. Database size,9 core genes 1 mutation genes 0 core associations. Views. Core Gene Page http://nsdpath.i2r.a-star.edu.sg/disease.php?pat_db_id=19

70. Human Protein: Q5JQN4 - ATPase, Cu++ Transporting, Alpha Polypeptide (Menkes Syn ATPase, Cu++ transporting, alpha polypeptide (menkes syndrome) Disease,defects in atp7a are associated with menkes syndrome (md) mim309400; http://harvester.embl.de/harvester/Q5JQ/Q5JQN4.htm

Human protein: Q5JQN4 - ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome). EMBL FORUM Length: 1500 aa , molecular weight: 163372 Da , CRC64 checksum: SOURCE BLAST OMIM SMART ... GoTo: SOURCE @ Stanford University ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) UniGene LocusLink OMIM GenAtlas ... Genome Browser Aliases 3.6.3.10; MK; MNK; OHS; OTTHUMP00000062077 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE Menkes disease-associated protein copper pump 1 copper-transporting ATPase 1 Chromosomal Location Chromosome/Cytoband Microarray Gene Expression Data Data available Show Gene Expression Data SwissProt Information SwissProt Accession No. Copper-transporting ATPase 1 (Homo sapiens) Function may supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-golgi network. under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells. Disease defects in atp7a are associated with menkes syndrome (md) [mim:309400]; also known as kinky hair disease. md is an x-linked recessive disease characterized by progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early retardation in growth, peculiar hair, hipopigmentation, cutis laxa, vascular complications and death in early childhood. it is due to a defect in absorption and transport of copper. Disease defects in atp7a are associated with occipital horn syndrome (ohs) [mim:304150]; also known as x-linked cutis laxa.

71. Menkes Syndrome - SWMC Serving Vancouver Washington Portland Oregon menkes syndrome Online Medical Encyclopedia courtesy of Southwest WashingtonMedical Center, a Top 100 Hosptital award winner locacted in Vancouver, http://www.swmedicalcenter.com/118644.cfm

@import url(default.css); Health Information Manager Back to Health Library Print This Page Email to a Friend Hypotonia Menkes syndrome Definition: Menkes syndrome is an inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper. Alternative Names: Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease Causes, incidence, and risk factors: Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper in the cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, and skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected. Symptoms: Pudgy, rosy cheeks Floppy baby ( hypotonia Irritability Seizures Brittle, kinky hair Feeding difficulties Low body temperature Bone spurs Signs and tests: There is often a history of Menkes syndrome in a male relative. Signs include slow growth in the womb, abnormally low body temperature, bleeding in the brain and abnormal appearance of the hair under the microscope. Males will have all of their hairs show abnormal structure but females who are carriers of this trait may show only half the hairs to be abnormal. The following tests may help diagnose the condition: X-ray of the skeleton or x-ray of the skull may show abnormal bone appearance (Wormian bones and metaphyseal widening) Serum copper level may be low Copper level in cultured skin cells (fibroblasts) is elevated up to 5 times normal level

72. Resource Library Find Information On Menkes Syndrome At MerckSource Find information on menkes syndrome at MerckSource. Learn more about Menkessyndrome, menkes syndrome is an inherited disorder that results in problems in http://www.mercksource.com/pp/us/cns/cns_hc_women_content_adam.jspzQzpgzEzzSzppd

73. Connexion Occipital horn syndrome and a mild Menkes phenotype associated with splice sitemutations Cloning of a candidate gene for menkes syndrome near the MNK http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=MNK&corgd=ATP7A

74. Guildlines For Citing The Genome Database There are two citations for this cell line Kapur, S, menkes syndrome in a girlwith Xautosome translocation. Am J Med Genet, Vol. 26 503-10, 1987. http://gdb.mirror.edu.cn/gdb/cite.html

75. Menkes Syndrome - Gastonia, North Carolina menkes syndrome Gastonia, North Carolina - courtesy of CaroMont Health. http://www.caromont.org/12041.cfm

Print Search Send to a friend Be Well ... Cancer InDepth �Diseases, Conditions and Injuries Menkes Syndrome (Kinky Hair Disease, Steely Hair Disease, Trichopoliodystrophy, X-linked Copper Deficiency, Copper Transport Disease) by Michelle Badash, MS Definition Causes Risk Factors ... Organizations Definition Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in arterial changes and deterioration of the brain. Menkes syndrome is rare. It occurs in 1 out of every 50,000-100,000 births. It affects primarily males. Most children born with Menkes syndrome have a life expectancy of 3-5 years. Causes Copper proteins are necessary for the body to build bone, nerves, and other tissue. Babies with Menkes syndrome have a genetic disorder that causes copper to build up in excess amounts in the kidney, while remaining deficient in the liver and brain. This causes changes in the hair, brain, bones, liver, and arteries. Risk Factors A risk factor is something that increases your chances of getting a disease or condition. Risk factors for Menkes syndrome include:

76. Www.healthfinder.gov/hg/files/?id=22831 menkes syndrome med Family Medicine for the Familymenkes syndrome is an inborn error of metabolism that markedly decreases thecells ability to menkes syndrome Login/Create an account 0 Comments http://www.healthfinder.gov/hg/files/?id=22831

77. RGD Gene Report: Atp7a Previous name, ATPase Cu++ transporting alpha polypeptide (menkes syndrome);ATPase, Cu++ transporting, Menkes kinky hair syndrome, ISS, 734621 http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=2179

78. CMAJ -- Please Take Our Questionnaire Menkes syndrome (also known as kinkyhair syndrome) was diagnosed, menkes syndrome is an X-linked recessive genetic disorder of copper metabolism http://www.cmaj.ca/cgi/content/full/166/11/1442

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79. Medical Dictionary, Writing & Editing - Health And Medical Information Produced It is to menkes syndrome. Since the prior edition of the dictionary, the generesponsible for menkes syndrome has been discovered. http://www.medicinenet.com/script/main/art.asp?articlekey=21283

80. Karger Publishers menkes syndrome, and Ehler sDanlos syndrome type V (Royce et al., 1980; oxidase activity in skin fibroblasts from patients with Menkes syndrome. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

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