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Menkes Syndrome:     more detail

Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18 Menkes syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Terri, MS, CGC Knutel, 2005 The Angry Puppet Syndrome by John H. Menkes, 1999-09

lists with details

41. Encyclopedia
    Index Go Back. menkes syndrome. by Michelle Badash, MS. Definition. menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A.  
    http://www.carenewengland.org/body.cfm?id=170&chunkiid=22831

42. Menkes Syndrome : A Serious Medical Condition. Resources To Obtain And Further U
    menkes syndrome A serious medical condition. Resources to obtain and further understanding of the topic. the keywords include menkes syndrome .  
    http://databank.oxydex.com/compendium_bibliographium/advanced_medical_specialtie

43. Health, Conditions And Diseases, Nutrition And Metabolism Disorders, Vitamins An
    menkes syndrome In depth look at this disease including the following, description, clinical features, biochemical and other features, molecular genetics  
    http://www.combose.com/Health/Conditions_and_Diseases/Nutrition_and_Metabolism_D

44. Menkes Syndrome :: Med Family :: Medicine For The Family
    RELATED LINKS. menkes syndrome menkes syndrome is an inborn menkes syndrome Login/Create an account 0 Comments. Threshold 1  
    http://www.medfamily.org/medArticle156.html

45. Menkes Syndrome | Med Family | Print Page
    menkes syndrome. Medical Family medicine for the family. Patient Information / Metabolic Disorders . menkes syndrome. menkes syndrome  
    http://www.medfamily.org/Print_medArticle156.html
    
    Extractions: [ Patient Information / Metabolic Disorders ] Menkes syndrome Menkes syndrome is an inborn error of metabolism that markedly decreases the cells' ability to absorb copper. The disorder causes severe cerebral degeneration and arterial changes, resulting in death in infancy. The disease can often be diagnosed by looking at a victim's hair, which appears to be both whitish and kinked when viewed under a microscope. Menkes' disease is transmitted as an X-linked recessive trait. Sufferers can not transport copper, which is needed by enzymes involved in making bone, nerve and other structures. A number of other diseases, including type IX Ehlers-Danlos syndrome, may be the result of allelic mutations (i.e. mutations in the same gene, but having slightly different symptoms) and it is hoped that research into these diseases may prove useful in fighting Menkes' disease. If administered within the first few months of life, copper histidinate appears to be effective in increasing the life expectancy of some patients. However, this treatment only increases life expectancy from three to thirteen years of age, so can only be considered a palliative. A similar condition to Menkes' disease exists in mice; working with these model organisms will help give insight into human copper transport mechanisms, so helping to develop effective treatments for Menkes' sufferers.

46. Menkes Syndrome Meaning And Access To Downloadable Pdf And E-book Documents When
    Updated - menkes syndrome - - information and downloadable pdf / e-book links. Search word Coordinate Terms search of noun menkes syndrome  
    http://www.thatquote.com/tmed1/Menkes_syndrome.html

47. Menkes Syndrome ? What Does Everyone Want To Know About Menkes Syndrome? Here's
    About menkes syndrome What you and I might want to know. Recommended References and Products. Earlier Blogs To NOV 10 2002. Latest books on menkes syndrome  
    http://health.xq23.com/conditions/part_1/Menkes_syndrome.html

48. Justin Gordon And Menkes Syndrome's Dreambook
    Justin Gordon and menkes syndrome Welcome to ago. It was very touching. As she stated, we are the original menkes syndrome Family. The  
    http://www.books.dreambook.com/dani27/justin.html
    
    Extractions: New Dream Network Dreamhost , and Dreamservers If you have a minute, please sign my Dreambook too! Name: tammy fourman E-mail address: crow72003@yahoo.com Comments: my son was diagnosed with menkes in march of 2004. i live in indiana and i spoke to dani recently about some things. i really enjoyed seeing those pictures of all the children,i wish that they were all here with their parents where they are needed the most . its made me feel a little better to talk to dani and know that another mom not too far away,has had a boy like mine. im not alone. take care. Friday, April 23rd 2004 - 06:23:06 PM Name: Alan Harned E-mail address: Adog722@aol.com Comments: Hello, my name is Alan and i am doing a research project about Menkes Syndrom.When i first signed up for the disease i thought it was just a little disease that wouldn't affect me.After looking at your website and seeing Justin and all of the other little children who had the disease, it really opened my eyes.I am truly sorry about your children.I'm sure that they were great kids, and are in a better place.Please know that i will pray for you all and that my life will always be changed.God bless you. Friday, March 19th 2004 - 10:23:43 AM

49. Alexa Web Search - Subjects > Health > ... > Nutrition And Metabolism Disorders
    menkes syndrome A definition and a look at the epidemiology, pathophysiology, clinical manifestations, diagnosis, treatment, prognosis and reference.  
    http://www.alexa.com/browse/general?catid=433190&mode=general

50. ATP7A
    CM942029, 167, tCAATAA, Gln-Term, menkes syndrome, 1. CM970124, 409, aCGA-TGA, Arg-Term, menkes syndrome, 2. CM010775, 487, TCA-TAA, Ser-Term, menkes syndrome, 3.  
    http://archive.uwcm.ac.uk/uwcm/mg/ns/1/119395.html
    
    Extractions: Number Codon Nucleotide Amino acid Phenotype Reference tCAA-TAA Gln-Term Menkes syndrome aCGA-TGA Arg-Term Menkes syndrome TCA-TAA Ser-Term Menkes syndrome aGAA-TAA Glu-Term Menkes syndrome TGCg-TGA Cys-Term Menkes syndrome aGCT-CCT Ala-Pro Menkes syndrome TCA-TGA Ser-Term Menkes syndrome aCGA-TGA Arg-Term Menkes syndrome aGAA-TAA Glu-Term Menkes syndrome aGAA-TAA Glu-Term Menkes syndrome CTT-CGT Leu-Arg Menkes syndrome TTA-TAA Leu-Term Menkes syndrome cGGA-AGA Gly-Arg Menkes syndrome cCGA-TGA Arg-Term Menkes syndrome CTC-CGC Leu-Arg Menkes syndrome cCAG-TAG Gln-Term Menkes syndrome aCAA-TAA Gln-Term Menkes syndrome TGG-TAG Trp-Term Menkes syndrome cCGA-TGA Arg-Term Menkes syndrome aCGA-TGA Arg-Term Menkes syndrome CTG-CCG Leu-Pro Menkes syndrome GGT-GAT Gly-Asp Menkes syndrome tGAA-TAA Glu-Term Menkes syndrome GGT-GAT Gly-Asp Menkes syndrome tGGA-AGA Gly-Arg Menkes syndrome gCAA-TAA Gln-Term Menkes syndrome tGGA-AGA Gly-Arg Menkes syndrome GCT-GTT Ala-Val Menkes syndrome References 1 - Das (1994) Am J Hum Genet 2 - Tumer (1997) Am J Hum Genet ... Hum Mol Genet

51. ATP7A
    Phenotype, Reference. CD972020, 378, GACACAA^GAAaCTGTGATAAA, menkes syndrome, 1. CD972021, 411, ACGAGTC^TCCcTTGCAAATAG, menkes syndrome, 1. CD000919,  
    http://archive.uwcm.ac.uk/uwcm/mg/ns/4/119395.html
    
    Extractions: codon Deletion Phenotype Reference GACACAA^GAAaCTGTGATAAA Menkes syndrome ACGAGTC^TCCcTTGCAAATAG Menkes syndrome GGAACTT^GTT_E6I6_gtaaGTAAGATTTT Occipital horn syndrome CATAAA^ATAGagTCTAGTCTCA Menkes syndrome CAAAA^CACAGagGGATCCTATA Menkes syndrome AAAGCA^CATAtTAAATATGAC Menkes syndrome AATA^AGACA_E8I8_GtaAGTACTTTGG Menkes syndrome CCATAAT^CAAaACATGAGTAA Menkes syndrome TGCCTAC^TCTttGATTATTCTT Menkes syndrome AATGTAT^GAGagagCCAAAGTGAA Menkes syndrome ACCCT^ATTACtttctttgacacacCCCCTATGCT Menkes syndrome TGGATTT^CTGaATTTTGAAAT Menkes syndrome AAGTATC^TCCcGAACAGAAAC Menkes syndrome TATTGC^AAACag_E16I16_GTACATTTTT Menkes syndrome TCTTCC^ATGAtTATTGATGCC Menkes syndrome GTGAAG^CCTGaAGCAGAACTG Menkes syndrome GAGGAG^GGGAaACGGGTAGCA Menkes syndrome TTTTG^ATAAGg_E20I20_GTAAGTGCCA Menkes syndrome AG_I20E21_AAT^GATCTtctGGATGTAGTG Menkes syndrome TATGCCC^ATTggtttggtttTGCAGCCCTG Menkes syndrome ATCTGTT^TCTgtAGTACTTTCT Menkes syndrome TCCTAAA^CTGgGTTTGCTGGA Occipital horn syndrome References 1 - Tumer (1997) Am J Hum Genet 2 - Moller (2000) Am J Hum Genet ... Am J Hum Genet

52. Menkes Syndrome - A Medical Reference Article
    menkes syndrome. A Medical Article Maryland Medical Center. A resource with information on over 10,000 medical topics including menkes syndrome.  
    http://www.bloodandmarrowtransplant.com/dwp/004582.htm

53. ...Menkes Syndrome
    syndrome. ABSTRACT. menkes syndrome is an Xlinked recessive disorder with a defect in the intestinal absorption of copper. The gene  
    http://www.imbiomed.com/Patol/Ptv44n2/english/Zpt72-01.html
    
    Extractions: ABSTRACT Menkes syndrome is an X-linked recessive disorder with a defect in the intestinal absorption of copper. The gene has been mapped to Xq13.3, distal to the X inactivation center. Detection of carriers is complicated due generally to the fact that they are phenotypically normal. The findings in a Mexican family in which the mother was found to be obligate carrier with two affected sons are discussed. Key words: Menkes´ syndrome, copper metabolism, detection of carriers.

54. Health Encyclopedia
    Index Go Back. menkes syndrome. by Michelle Badash, MS. Definition. menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A.  
    http://www.wellnessctr.org/body.cfm?id=99&chunkiid=22831

55. St.Francis Hospitals And Health Centers
    Health Information Education. Back to Index, menkes syndrome. Definition. menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A.  
    http://www.stfrancishospitals.org/DesktopDefault.aspx?ID=22831&tabindex=3&tabid=

56. Health Topics
    Search healthcare information Advanced search menkes syndrome. menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A.  
    http://www.legalpointer.com/healthtopics.php?&A=&I=&article=22831

57. Menkes Syndrome
    Browse forwards .. Menu. menkes syndrome; Kinky (or Steely) Hair Disease. Synonyms Copper Transport Disease McKusick No. 30940. 1. Physical. Pili torti.  
    http://oxmedinfo.jr2.ox.ac.uk/Pathway/Disease/79421.htm

58. Disease - Menkes Syndrome, North Carolina
    Disease menkes syndrome, Online Medical Encyclopedia courtesy of University Health Systems of Eastern Carolina serving 29 counties in eastern North Carolina.  
    http://www.uhseast.com/11608.cfm
    
    Extractions: Back Email Us Search Centers of Excellence ... Disease Management Hypotonia 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 And Risk: 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. Prevention: Genetic counseling is recommended for prospective parents with a family history of Menkes syndrome. Evaluation by a geneticist is recommended for maternal relatives of an affected boy to determine genetic risks and carrier status. Symptoms: Pudgy, rosy cheeks

59. Menkes Syndrome
    menkes syndrome. Definition Causes, incidence, and risk factors menkes syndrome is inherited as an Xlinked recessive disorder.  
    http://www.valleybaptist.net/ency/article/001160.htm
    
    Extractions: Causes, incidence, and risk factors: Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper availability to cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, as well as skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected.

60. Menkes Disease,Kinky Hair Disease,Steely Hair Disease,Trichopoliodystrophy,X-lin
    menkes syndrome menkes syndrome is an inborn error of metabolism that markedly decreases the cells ability to absorb copper. The  
    http://www.icomm.ca/geneinfo/menkes.htm
    
    Extractions: Menkes Disease,Kinky Hair Disease,Steely Hair Disease,Trichopoliodystrophy,X-linked Copper Deficiency,Copper Transport Disease,X-linked Copper Malabsorption,Menkes Disease,Kinky Hair Disease,Steely Hair Disease,Trichopoliodystrophy,X-linked Copper Deficiency,Copper Transport Disease,X-linked Copper Malabsorption National Organization for Rare Disorders Menkes Disease is a genetic disorder of copper metabolism beginning before birth. Copper accumulates in excessive amounts in the liver, and is deficient in most other tissues of the body. Structural changes occur in the hair, brain, bones, liver and arteries.

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