41. Lowe Syndrome Lowe s syndrome, oculocerebrorenal syndrome of Lowe. Printable version lowe syndrome is a rare Xlinked disorder characterized by bilateral congenital http://www.humpath.com/article.php3?id_article=1213

42. PHP : Resource Details lowe syndrome Association and relatives of individuals with Lowe s Syndrome,as well as medical, scientific, educational, and other professionals http://www.php.com/include/agency/agency_item.php?AgencyID=92&where_keywords=

43. On Board For Lowe Syndrome More about lowe syndrome Sponsors passed away May 6th, 2003 from complicationsof lowe syndrome. on board for lowe syndrome. Josh Maready 24 http://www.asphaltplayground.com/lowe.html

Click Here to make a Donation asphaltplayground.com Route Schedule Stories from the Road More about Lowe Syndrome ... Sponsors Day 21 If you would like to reach the team here are the ways: email: skateacrossamerica2003@yahoo.com SAA T-Shirts $15.00 shipped in the USA, $25.00 for team signed ones shipped in the USA. Send Order Richmond, Virginia to Williamsburg, Virginia Jack Marshall Smith Jack Smith, organizer and lead skater of the team, recently lost his 14-year old son to the syndrome and this is a way to draw attention to the rare genetic syndrome. Jack Marshall Smith, passed away May 6th, 2003 from complications of Lowe Syndrome. "My son has been an incredible inspiration to myself and many others, whose lives he has touched. This is my chance to pay him back for all that he has taught me". Smith, along with Nick Krest, Scott Kam, and Josh Maready will attempt to set a new world record by making the transcontinental trek in less than 3 weeks. The current world distance record was set nearly twenty years ago when Smith along with Gary Fluitt, Paul Dunn, and Bob Denike, who completed the transcontinental skate in 26 days. "This time it will be a lot harder" Smith said "I'm well into my 40's now, and pushing a skateboard 150 miles a day isn't so easy on old bones".

44. On Board For Lowe Syndrome The trip is a means to promote lowe syndrome awareness, diagnosis, and research . The rest of the team has never met a boy with lowe syndrome. http://www.asphaltplayground.com/lowe_road_stories.html

asphaltplayground.com Click Here to make a Donation Home Route Schedule More about Lowe Syndrome Sponsors Day 21 Richmond, Virginia to Williamsburg, Virginia Day 21 - Richmond, Virginia to Williamsburg, Virginia This was our easiest day by far, only around 50 miles of skating. Perfect pavement the whole way, flat or slightly downhill. We actually had to slow down in order to give the press time to set up. John Dillon was waiting for us at the finish with ice cold Cokes and Gatorade. He also treated us to lunch at the Cracker Barrel. Thanks, John. Also thanks to Wes E. for helping out with filming. Relaxed and swam at the motel pool, then went to the movies. I hope everyone noticed the incredible contribution that Rene Bruce of longskate.com made yesterday, .25 cents per mile and 5% of longskate.com sales for the rest of the year. Thanks, Rene. Some of you may not know that if Rene hadn't stepped up to the plate in 2001 the World's would have never happened. For me it was a bittersweet day, skating those last few miles reflecting on the trek and my skating career in general. I am blessed that I was able to make this ride, and blessed to have so many friends and strangers who made it all possible. And most of all my wife Maurine. There are not many wives who would put up with and support all my crazy projects...I love you Maurine.

45. Lowe Syndrome Mutation Database lowe syndrome Mutation Database. NAR Molecular Biology Database Collection entrynumber 523. http//research.nhgri.nih.gov/lowe/ http://www3.oup.co.uk/nar/database/summary/523

46. Lowe Syndrome Trust The lowe syndrome Trust was founded in June 2000 as the only UK charity raisingfunding for medical research into the incurable children s disease called http://lowetrust.smartchange.org/

Contact: 77 West Heath Road London London Mrs Lorraine Thomas Chair Tel : 0208 458 6791 Click here to e-mail us Welcome to Lowe Syndrome Trust The Lowe Syndrome Trust was founded in June 2000 as the only UK charity raising funding for medical research into the incurable children's disease called Lowe Syndrome. The Trust is small and voluntary with no government support or funding. The Trust has funded four UK research projects to date and three in the USA from fundraising campaigns. Our Vision- To gain awareness of the Lowe Syndrome disease and further research. Programmes and Activities- The Trust has a full programme of activities as shown on the website www.lowetrust.com Further Details about Lowe Syndrome Trust Charity Registration No: Broad sector: Annual turnover: less than 100k Website: www.lowetrust.com Staff Details: Full time staff: 1 Part time staff: 2 Volunteers: 2

47. NEJM -- Clinical And Laboratory Findings In The Oculocerebrorenal Syndrome Of Lo Early proximal tubular dysfunction in Lowe s syndrome. Endstage renal failurein lowe syndrome. Nephrol Dial Transplant 18 1923-1925 Full Text http://content.nejm.org/cgi/content/abstract/324/19/1318

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 324:1318-1325 May 9, 1991 Number 19 Next Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function LR Charnas, I Bernardini, D Rader, JM Hoeg, and WA Gahl Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract Source Information Unit on Neurogenetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892. This article has been cited by other articles: Moe, O. W., Bonny, O. (2005). Genetic Hypercalciuria. J Am Soc Nephrol [Abstract] [Full Text] Laube, G F, Russell-Eggitt, I M, van't Hoff, W G (2004). Early proximal tubular dysfunction in Lowe's syndrome. Arch. Dis. Child. [Abstract] [Full Text] Tricot, L., Yahiaoui, Y., Teixeira, L., Benabdallah, L., Rothschild, E., Juquel, J.-P., Satre, V., Grunfeld, J.-P., Chauveau, D. (2003). End-stage renal failure in Lowe syndrome. Nephrol Dial Transplant [Full Text] Gahl, W. A., Brantly, M., Kaiser-Kupfer, M. I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L. F., Kuehl, E. M., Troendle, J., Bernardini, I. (1998). Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky-Pudlak Syndrome).

48. University Of Dundee : External Relations : Press Office A young boy who suffers from the debilitating lowe syndrome appeared live on GMTV lowe syndrome is a rare genetic disorder that affects only boys and http://www.dundee.ac.uk/pressreleases/prapr04/oscar.html

Text only Search All Dundee Courses DUSA External Relations Alumni Relations Press Office Events Office ... About Dundee 29 April 2004 Lowe syndrome A young boy who suffers from the debilitating Lowe Syndrome appeared live on GMTV this morning with his mum and the scientist who is leading research to advance understanding and treatment of the genetic disease at the University of Dundee. Oscar Thomas (10), his mum Lorraine and Dr John Lucocq from the School of Life Sciences were interviewed by Lorraine Kelly live on LK today to tell viewers about the sydrome and the vital research that is going on in DUndee to find a treatment and ultimately a cure for Lowe syndrome. Lowe Syndrome is a rare genetic disorder that affects only boys and produces cataracts in the eyes, defects in brain development and kidney problems. Life expectancy of the boys is short due to the complications of the disease. The disease was first recognised in 1952 by Dr Charles Lowe, and is caused by a defective gene (Ocrl1). Dr Lucocq has been awarded a grant of £49,869 from the Lowe Syndrome Trust run by Lorraine Thomas to undertake research on the protein, Ocrl1, which is produced by the faculty gene and is thought to reside in the Golgi apparatus. The Golgi apparatus is responsible for the processing, sorting, packaging and distribution of proteins in cells to the right destinations within cells. Dr Lucocq believes that defects in kidney and nerve cell function are linked to problems of protein transport from Golgi to other parts of the cells.

49. News lowe syndrome is a rare genetic disorder that affects only boys and Lorraine Thomas established the lowe syndrome Trust in June 2000 after Oscar was http://www.dundee.ac.uk/biocentre/SLSBNewsarchiveoct03.htm

School of Life Sciences Research Biocentre Search this site: Seminars Current News News Archive Awards ... Research Review 2002 News Archive - October 2003 Lowe Syndrome Funding On 28 October Oscar Thomas met John Lucocq , whose research it is hoped will advance the understanding and treatment of the genetic disease he suffers from. Lorraine Thomas established the Lowe Syndrome Trust in June 2000 after Oscar was diagnosed with the incurable syndrome in 1999. The objective of the Trust is to fund medical research which will eventually lead to the development of drugs to better regulate the metabolic imbalance of the disease and eventually a cure of the syndrome. Fundraising Book Launch The European book launch of " A Sense of Belonging to Scotland " by Andy Hall was held at Scotland Europa in Brussels on 14 October, in aid of the

50. Lowe Syndrome Association Inc lowe syndrome Association Inc. lowe syndrome Association Inc 222 Lincoln StW Lafayette, IN 47906 (765) 7433634 - voice http://www.merchantamerica.com/lsa/

Lowe Syndrome Association Inc Lowe Syndrome Association Inc 222 Lincoln St W Lafayette, IN 47906 (765) 743-3634 - voice (612) 866-3222 - fax info@lowesyndrome.org This is where you can enter in information you want your customers to see first. To change this, please login to https://www.merchantamerica.com/admin Secure Processing by ECHO

51. Genome.gov | Nussbaum Lab His two major areas of concentration are lowe syndrome and Parkinson’s disease.lowe syndrome, formally known as Lowe oculocerebrorenal syndrome (OCRL), http://www.genome.gov/10000360

triggerParms["cpp_5"] = "Referer:"+ cppUrlPatch (""); // Optional Home About NHGRI Newsroom Staff ... Research Investigators Profiles, publications, links Clinical Research Clinical trials, patient recruitment, IRB FAQ , Overview NHGRI Affiliated Centers CIDR NCGC NISC Online Research Resources Developed at NHGRI Databases, software, tools, more. Division of Intramural Research Calendar Workshops, conferences, seminar series, courses, more. Books and Publications In Other Sections: Administrative Management Branch Intramural Training Office Office of Laboratory Animal Medicine Professional Development Office ... Genetic Disease Research Branch Nussbaum Lab Robert L. Nussbaum, M.D. Senior Investigator and Chief Genetic Disease Research Branch Senior Investigator and Acting Chief Inherited Disease Research Branch Head Inborn Errors and Cell Biology Section A.B. Harvard College, 1971 M.D. Harvard Medical School, 1975 rlnuss@mail.nih.gov

52. Lowe Syndrome lowe syndrome (LS) is a rare genetic condition that causes physical and The condition became known as lowe syndrome named after Dr. Charles Lowe, http://www.geocities.com/disabilitiesinaction/lowesyndrome.html

Lowe Syndrome Lowe Syndrome (LS) is a rare genetic condition that causes physical and mental handicaps, and medical problems. It was first described in 1952 by Drs. Lowe, Terrey, and MacLachlan at the Massachusetts General Hospital in Boston. The condition became known as "Lowe syndrome" named after Dr. Charles Lowe, the senior member of the group that described it. Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as OCRL (oculo-cerebro-renal) syndrome. Boys with Lowe Syndrome are born with cataracts in both eyes, which are usually removed at a few months of age. Most boys are fitted with glasses, contacts, or a combination of the two. Glaucoma is present in about 50% of the boys with Lowe syndrome, though usually not at birth. Prescription eye drop and/or surgery is required to maintain appropriate eye pressure in these cases. While not present at birth, many Lowe Syndrome boys develop kidney problems at approximately one year of age. This is characterized by the abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin and other small proteins, calcium, phosphate, glucose, and L-carnitine. This problem is known as Fanconi-type renal tubular dysfunction and can also be seen in certain other diseases and syndromes. In Lowe syndrome, the Fanconi syndrome may be mild and involve only a few substances or may be severe and involve large losses of many substances. Medications can be prescribed to replace the lost substances.

53. Geneticalliance.org lowe syndrome Also known as Oculocerebrorenal Syndrome Support Groups lowe syndrome Association 222 Lincoln Street West Lafayette, IN 47906 http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

54. Geneticalliance.org lowe syndrome Association Living with lowe syndrome lowe syndrome Association –What National Organization for Rare Disorders (NORD) – lowe syndrome http://www.geneticalliance.org/ws_display.asp?filter=resources_by_disease&keywor

55. Society For Neuroscience | Public Resources Subcategory lowe syndrome. lowe syndrome Association Back About SfN Programs Publications Meetings/Events Membership http://apu.sfn.org/Template.cfm?Section=PublicResources&Template=/PublicResource

56. Charity Details For Lowe Syndrome Trust lowe syndrome is a genetic mutation affecting boys that causes cataracts, kidneyproblems,failure to thrive, poor growth, hypotonia, mental retardation and http://www.allaboutgiving.org/causes/uk/charityfind/charitydetails.cfm?id=31907

57. Lake County Public Library : Service Program Records For The Keyword Lowe's Synd Programs attached to keyword Lowe s Syndrome. lowe syndrome ASSOCIATION INC . .. . WEST LAFAYETTE Select a letter from the list to find matching keywords. http://www.lakeco.lib.in.us/iris/_1dj18bnwd.html

Lake County Public Library Community Resources Directory Programs attached to keyword Lowe's Syndrome LOWE SYNDROME ASSOCIATION INC . . . . WEST LAFAYETTE Select a letter from the list to find matching keywords. A B C D ... Z

58. Reporter - Jono, DJ With A Heart The lowe syndrome Trust was set up in 2000 by Lorraine Thomas, mother of 10yearold son Hopefully, it will produce a simple test for lowe syndrome, http://www.imperial.ac.uk/P4792.htm

Issue 135, 10 December 2003 Contents RobotWars... this time it's personal Jono, DJ with a heart Students steal the show In tune for the big show ... What's On Jono, DJ with a heart by Tom Miller The money, raised by the Trust, will fund three years of research at the College into Lowe Syndrome, an incurable, rare disease affecting up to 10 per million male births, and often resulting in bilateral cataracts, muscle weakness, and kidney and brain development problems. Work will include chemical test for signs of the OCRL enzyme which could lead to a fast, user-friendly and reliable method to help doctors diagnose and treat the Syndrome. The defective enzyme means that carriers cannot control levels of the molecule, PIP2, which leads to the development of Lowe Syndrome symptoms. The Lowe Syndrome Trust was set up in 2000 by Lorraine Thomas, mother of 10-year old son Oscar who was diagnosed with the disease in 1999. "We were devastated when Oscar was diagnosed with the syndrome," she said. "I am so grateful for the research being carried out at Imperial College. "Hopefully, it will produce a simple test for Lowe Syndrome, leading to the development of medicines to better regulate the metabolic imbalance, or perhaps even lead the way to synthesising the missing enzyme."

59. Imperial College London - DJ Jono Coleman Presents Genetic Research Grant To Imp lowe syndrome is a genetic disorder that affects only boys and produces bilateral The lowe syndrome Trust is a UK charity formed in June 2000 as an http://www.imperial.ac.uk/p4735.htm

Quick Navigation Imperial home page A-Z of Departments Courses Research Alumni Faculty of Engineering Faculty of Life Sciences Faculty of Medicine Faculty of Physical Sciences Humanities Tanaka Business School The Graduate Schools: - Engineering and Physical Sciences - Life Sciences and Medicine Spectrum (College Intranet) College directory Help Your browser does not support javascript or you have javascript turned off. Although this will not affect your accessibility to the content of this site, some of the advanced navigation features may not be available to you. Note: Some of the graphical elements of this site are only visible to browsers that support accepted web standards . The content of this site is, however, accessible to any browser or Internet device. DJ Jono Coleman presents genetic research grant to Imperial scientists See also... Chemistry web site External Sites: The Lowe Syndrome Trust website Heart 106.2 website (Imperial College is not responsible for the content of these external internet sites) For Immediate Use Tuesday 18 November Jono Coleman, breakfast DJ on London's Heart 106.2 radio station will today meet scientists at Imperial College London who are tackling a rare genetic disease thanks to funds from the charity, the Lowe Syndrome Trust.

60. Children Living With Inherited As a result of several research presentations given at the lowe syndrome TrustUK Symposium at Press Release lowe syndrome Trust – www.lowetrust.com http://www.climb.org.uk/ER News/ERNews.htm

Search Our Site The National Information and Advice Centre for Metabolic Diseases C l i m b Email Research News Sheet Previous Research Enews Vol 1 No 1 Vol 1 No 2 Research ENews Vol 1 No 3 August 2005 Welcome to the National Information and Advice Centre for Metabolic Diseases Research News Sheet - Vol 1 No 3 The contents of this news sheet has been gathered from around the globe during our research to update our information on metabolic diseases. The contents are general and not specific to our cause. New Potentially Revolutionary Gene Editing Technique Shwachman Diamond Syndrome (SDS) SDS Registry-UK Genzyme Reports Interim Results Pivotal Study of Myozyme ... Designated Centres to Provide Service for Patients with Lysosomal Storage Disorders New Potentially Revolutionary Gene Editing Technique Scientists at Sangamo Biosciences in California have developed a new technique to permanently rewrite any gene in the human body. The new gene editing technique offers hope for many individuals affected by inherited disorders. The scientists have used the technique to correct mistakes in the gene that causes X-linked Severe Combined Immune Deficiency (SCID). According to Sangamo, this could be enough to cure some SCID patients. The results appear in the online version of the journal Nature.

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