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Lowe Syndrome:     more detail

Lowe oculocerebrorenal syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Holly, MS Ishmael, 2005 Living With Lowe Syndrome: A Guide for Families, Friend, and Professionals Living With Lowe Syndrome: A Guide for Families, Friends, and Professionals Blood Rheology and Hyperviscosity Syndromes (Bailliere's Clinical Haematology) by Lowe, 1987-12-31 Gale Encyclopedia of Alternative Medicine: Pinched nerve by Whitney Lowe, 2001-01-01 Pinched nerve: An entry from Thomson Gale's <i>Gale Encyclopedia of Alternative Medicine</i> by Whitney Lowe, 2001

lists with details

81. Lowe Syndrome
    lowe syndrome (OculoCerebro-Renal Syndrome of Lowe, LS). lowe syndrome(LS)?  
    http://www.amc.seoul.kr/~amcmg/menu4/sub5_Gen5041.htm
    
    Extractions: Lowe syndrome(LS)Àº ³²ÀÚ¿¡°Ô ÀÌȯµÇ´Â ¾ÆÁÖ µå¹® À¯ÀüÁúȯÀ¸·Î ÀÎü¿¡ Áß¿äÇÑ ´ë»çÀå¾Ö·Î ÀÎÇØ ½ÅüÀû, Á¤½ÅÀû, ÀÇÇÐÀûÀÎ ¹®Á¦µéÀ» À¯¹ßÇÕ´Ï´Ù. 1952³â Charles Lowe¿Í ±×ÀÇ µ¿·áµé¿¡ ÀÇÇØ ¾Ë·ÁÁö°Ô µÇ¾úÀ¸¸ç, ´«°ú ³ú, ½ÅÀå µî ¼¼ ±â°ü¿¡ ÁÖ·Î ¿µÇâÀ» ¹ÌÄ£´ÙÇÏ¿© Oculo-cerebro-renal syndrome of Lowe(OCRL)¶ó°íµµ ºÎ¸¨´Ï´Ù. Lowe syndrome(LS)Àº X ¿°»öü ¿­¼ºÀ¸·Î À¯ÀüµÇ¸ç, phosphatidylinositol 4, 5-biphosphate 5-phosphatase È¿¼Ò¸¦ codingÇÏ´Â À¯ÀüÀÚÀÇ °á¼ÕÀ¸·Î ÀÎÇØ ¹ßÇöµË´Ï´Ù. ÀÌ È¿¼Ò´Â °ñÁöü(Golgi)¿¡¼­ Á¤»óÀûÀÎ ´ë»ç°úÁ¤¿¡ ÇʼöÀûÀÎ È¿¼ÒÀÔ´Ï´Ù. ÀÌ È¿¼Ò°¡ ºÎÁ·ÇÏ°Ô µÇ¸é °ñÁöü¿¡ ÀÇÇØ Á¶ÀýµÇ´Â ¼¼Æ÷±â´ÉÀÌ ºñÁ¤»óÀûÀ¸·Î µÇ°í, ¹é³»Àå°ú ³ú¿Í ½ÅÀåÀÇ ÀÌ»ó µîÀ» Æ÷ÇÔÇÑ ¿©·¯ °¡Áö ¹ß´ÞÀå¾Ö¸¦ À¯¹ßÇÕ´Ï´Ù.

82. Listings Of The World Health Conditions And Diseases Genetic
    Listings World Health Conditions and Diseases Genetic Disorders lowe syndrome.Listings World, Over 2 million websites from around the globe.  
    http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/Lowe_S

83. Association Du Syndrome De Lowe
    Association du syndrome de lowe. Dernière Mise à jour le 14/04/02  
    http://www.multimania.com/asl

84. Lowe's Syndrome
    lowe's syndrome. Subject lowe's syndrome Title Living with lowe's syndrome Author(s) Journal Book Vol Date 1987  
    http://med-aapos.bu.edu/PediRef/lowe%27s_syndrome.html
    
    Extractions: Subject: Lowe's Syndrome Title: Living with Lowe's Syndrome Author(s): Journal: Book: Vol: Date: 1987 Page(s): Organization: Lowe's Syndrome Association, Inc. Address: 222 Lincoln Street City: West Lafayette State: IN Zip: 47906 Phone: (317) 743-3634 Type: Booklet Subject: Lowe's Syndrome Title: On the Beam Author(s): Journal: Book: Vol: Date: Page(s): Organization: Lowe's Syndrome Association, Inc. Address: 222 Lincoln Street City: West Lafayette State: IN Zip: 47906 Phone: (317) 743-3634 Type: Newsletter Subject: Lowe's Syndrome Title: Lowe's Syndrome Author(s): Journal: Book: Vol.: Date: 1992 Pages: Organization: National Organization for Rare Disorders, Inc. Address: P.O. Box 8923; 100 Route 37 City: New Fairfield State: CT Zip: 06812-1783 Phone: (203) 746-6518 Type: Fact sheets Press This To Return Pedi Resource Home Page

85. Lowe's Syndrome
    lowe's syndrome. Subject lowe's syndrome Title Living with lowe's syndromeAuthor(s) Journal Book Vol Date 1987 Page(s) Organization  
    http://med-aapos.bu.edu/PediRef/lowe's_syndrome.html
    
    Extractions: Subject: Lowe's Syndrome Title: Living with Lowe's Syndrome Author(s): Journal: Book: Vol: Date: 1987 Page(s): Organization: Lowe's Syndrome Association, Inc. Address: 222 Lincoln Street City: West Lafayette State: IN Zip: 47906 Phone: (317) 743-3634 Type: Booklet Subject: Lowe's Syndrome Title: On the Beam Author(s): Journal: Book: Vol: Date: Page(s): Organization: Lowe's Syndrome Association, Inc. Address: 222 Lincoln Street City: West Lafayette State: IN Zip: 47906 Phone: (317) 743-3634 Type: Newsletter Subject: Lowe's Syndrome Title: Lowe's Syndrome Author(s): Journal: Book: Vol.: Date: 1992 Pages: Organization: National Organization for Rare Disorders, Inc. Address: P.O. Box 8923; 100 Route 37 City: New Fairfield State: CT Zip: 06812-1783 Phone: (203) 746-6518 Type: Fact sheets Press This To Return Pedi Resource Home Page

86. Lowe, Syndrome : Sites Et Documents Francophones
    Translate this page Synonyme(s) oculo-cerebro-renal, syndrome. Arborescence(s) du thesaurus MeSHcontenant le mot-clé lowe, syndrome oculocerebrorenal syndrome  
    http://www.chu-rouen.fr/ssf/pathol/lowesyndrome.html

87. Lowe, Syndrome : Arborescences MeSH
    Translate this page lowe, syndrome. lowe, syndrome C10.228.140.163.100.640 page CISMeF du motclefMELAS, syndrome C10.228.140.163.100.535 page CISMeF du motclef  
    http://www.chu-rouen.fr/navimesh/navilowesyndrome.html

88. Lowe's Syndrome
    Medical Information on lowe's syndrome. For whom is this information intended? Website www.viscotland.org.uk. Medical Information on lowe's syndrome.  
    http://www.ssc.mhie.ac.uk/eyeconds/Lowe's.htm
    
    Extractions: For whom is this information intended? The information contained in this document is intended for use primarily by parents, other members of the family and older children with visual impairment. The information will also be of use to interested health professionals, carers and teachers. The purpose of each information document The purpose of the information is to explain: This document is written with the minimum use of medical terms and jargon. It is impossible to avoid all medical terms but where we have used them we have attempted to explain them as clearly as we can. Although the information is intended to describe most aspects of the condition each child is different and there will always be exceptions to the rule. As far as we can determine these pages are true and accurate and have been written in good faith. Inevitably there will be some mistakes. We apologise for this. What this Information is not for?

89. Sensory Information Service
    lowe's syndrome. lowe's syndrome Also known as oculocerebro-renal (eye, brain,kidney) syndrome, this is a rare condition inherited from the mother.  
    http://www.ssc.mhie.ac.uk/VPages/F5/V553.htm
    
    Extractions: Leber congenital amaurosis: is a condition sometimes classified cortical blindness or congenital absence of the rods and cones or a type of early onset retinitis pigmentosa. Most children with this condition are completely blind at birth. Associated conditions can be disorders of the brain and head size and other physical disorders. Generally the eyes look normal for the first two or three years but then have pigmentary changes. Pupil reactions can be sluggish and eye rubbing is common. Support group: PLAN Last Changed - 04/02/03

90. Charity Glossary
    lowe's syndrome lowe's syndrome Association 29 Gleneagles Drive, Penwortham, Preston,Lancashire, PR1 0JT Tel 01772 745070 Language Disorders, lowe's syndrome.  
    http://www.ivillage.co.uk/ivillageuk/tools/charity_gloss/0,10005,4-1206-L-,00.ht
    
    Extractions: Tel: 01772 745070 Promotes the welfare, and aims to maximise the potential, of persons affected by Lowe's syndrome. Fosters support and communication among families affected by the syndrome. L Language Disorders Lowe's Syndrome Law and Justice Lupus Erythematosus ... Lymphangioma Around iVillage Reinvent Yourself

91. Lowe's Syndrome
    lowe's syndrome,, Print this article, (Charles lowe, born 1921, Americanpaediatrician), (also called oculocerebral renal syndrome  
    http://www.amershamhealth.com/medcyclopaedia/Volume IV 2/LOWES SYNDROME.asp
    
    Extractions: *For Medical Professionals only, registration required Lowe's syndrome, (Charles Lowe, born 1921, American paediatrician), (also called oculocerebral renal syndrome), initially recognized in 1952, by Lowe, Terry and McLahan who described the triad of congenital cataracts, mental retardation and generalized aminoaciduria. It is an X-linked recessive disorder, affecting males. The probable gene site is Xq24-36 and probable aetiopathogenesis is an inborn error of inositol phosphate metabolism. There have been approximately 150 reported cases. It affects males of Caucasian or Asian ancestry. Primary clinical manifestations include: congenital cataracts, cognitive impairment, and renal tubular dyfunction ( Fanconis syndrome ). Secondary clinical features include areflexia, hypotonia, glaucoma, corneal keloid, and noninflammatory joint swelling. The affected children are short in stature, likely due to renal disease. Deaths related to renal failure, dehydration, and recurrent infections have been reported. Characteristic lens opacities are seen in female carriers of the abnormal gene.

92. Lowe's Syndrome
    lowe's syndrome,, Print this article, (Charles lowe, born 1921, Americanpaediatrician), see oculocerebrorenal syndrome HC The Encyclopaedia  
    http://www.amershamhealth.com/medcyclopaedia/Volume VII/LOWES SYNDROME.asp

93. Lowe's Syndrome - General Practice Notebook
    medical information from General Practice Notebook. lowe's syndrome.lowe's syndrome is an X linked condition in which there is a  
    http://www.gpnotebook.co.uk/cache/-355467220.htm

94. Lowe Syndrome Mutation Database
    http://www.nhgri.nih.gov/DIR/GDRB/Lowe/
    
    Extractions: Research @ NHGRI Online Research Resources Lowe Syndrome Mutation Database Lowe oculocerebrorenal syndrome is an X-linked disorder caused by mutations in the OCRL1 gene, which encodes a 105-kDa Golgi protein with phosphatidylinositol (4,5) bisphosphate 5-phosphatase activity. A database of mutations causing Lowe syndrome has been established. Information on new mutations may be submitted online. OCRL1 mutation database Reported OCRL1 mutations causing Lowe Syndrome Numbering of exons, nucleic acid sequence,

95. Katalog - Wirtualna Polska
    Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce.  
    http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Genetic_Disorders/Lowe_

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