81. 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

Scottish Sensory Centre Medical Information on Lowe's Syndrome 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: The way the eyes and brain normally work to make 'vision' The reason why vision may become impaired by a specific condition The cause of the condition The effects of the condition on the child's vision How the condition is diagnosed What can be done to help 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?

82. UK Lowe Syndrome Trust Association du syndrome de lowe Translate this page Association du syndrome de lowe. http://www.lowetrust.com/

registered charity no 1081241 Home Donations Fundraising Events About the Charity ... Contact Welcome to the UK Lowe Syndrome Charity website GMTV Breakfast Television Dundee University (video clip to be posted) Ladies who lunch 6th May Highgate with guest star Tris Payne. Champagne reception with lunch, magician mind reader, sale and raffle prizes including Harrods Hamper. Tickets £35. BBC Radio 4 appeal by Tom Conti 11-15th April raised £7,500. UK Gift Aid Declaration tax form. Donate CAF charity card House of Lords reception 7th July with Lord Janner Entry Forms for london FLORA fun-run Hyde Park 5th Sept 7th November New York Marathon flights+hotel package Ball raised 25th November Nutcracker Ball - Park Lane click here to download video clip.

83. Lowe's Syndrome,Cerebro-Oculorenal Dystrophy,Lowe-Bickel Syndrome,Lowe-Terry-Mac lowe s syndrome,CerebroOculorenal Dystrophy,lowe-Bickel syndrome,lowe-Terry-MacLachlan syndrome,LS,OCRL,Oculocerebrorenal Dystrophy,Oculocerebrorenal syndrome http://www.icomm.ca/geneinfo/cor.htm

For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Lowe Syndrome also known as: Cerebrooculorenal Dystrophy Cerebro-Oculo-Renal Dystrophy Lowe-Bickel Syndrome Lowe-Terry-MacLachlan Syndrome LS OCRL Oculocerebrorenal Dystrophy Oculocerebrorenal Syndrome Renal-Oculocerebrodystrophy (as defined by the National Organization for Rare Disorders Lowe Syndrome, also known as oculo-cerebro-renal syndrome, is a rare inherited metabolic disease that affects males. This disorder is characterized by lack of muscle tone (hypotonia), multiple abnormalities of the eyes and bones, the presence at birth of clouding of the lenses of the eyes (cataracts), mental retardation, short stature, and kidney problems. Other findings may include protrusion of the eyeball from the eye socket (enophthalmos); failure to gain weight and grow at the expected rate; weak or absent deep tendon reflexes; and multiple kidney problems (e.g., renal tubular dysfunction, renal hyperaminoaciduria, etc.). Lowe Syndrome is inherited as an X-linked genetic trait and symptoms develop due to lack of the enzyme phosphatidylinositol 4,5-biphosphate 5 phosphatase.

84. Lowe, Syndrome : Sites Et Documents Francophones Translate this page Synonyme(s) MeSH Oculo-cérébro-rénal, syndrome. Arborescence(s) du thesaurus MeSH contenant le mot-clé lowe, syndrome oculocerebrorenal syndrome http://www.chu-rouen.fr/ssf/pathol/lowesyndrome.html

Lowe, syndrome Menu général CISMeF Synonyme(s) CISMeF oculo-cérébro-rénal, syndrome. Synonyme(s) MeSH Oculo-cérébro-rénal, syndrome Arborescence(s) Lowe, syndrome oculocerebrorenal syndrome maladies et malformations congénitales, héréditaires et néonatales maladies urologiques et appareil génital mâle métabolisme et nutrition, maladies système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : patient ASL - Association du Syndrome de Lowe [présentation de l'association, informations sur la pathologie, projets, recherche ; pays : France ; ville : Villemomble ; langue : français ; format : html ; accès : gratuit ; non parrainé ; visité le : 09/10/2003]. mots clés : enfant Lowe, syndrome maladies génétiques congénitales maladies rares type(s) : * association patients Lowe, syndrome de

85. Lowe, Syndrome : Arborescences MeSH Translate this page lowe, syndrome arborescences MeSH. Menu général CISMeF. Vous pouvez aussi consulter toutes les arborescences des mots clés http://www.chu-rouen.fr/navimesh/L/navilowesyndrome.html

Lowe, syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF système nerveux, maladies système nerveux central, maladies encéphalopathies encéphalopathies métaboliques ... pseudo-hypoaldostéronisme 07 janvier 2004 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

86. Lowe's Syndrome lowe s syndrome,. Print this article, (Charles lowe, born 1921, American paediatrician), (also called oculocerebral renal syndrome http://www.amershamhealth.com/medcyclopaedia/medical/Volume IV 2/LOWES SYNDROME.

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters 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. The primary biomedical defects remain indeterminate. In affected individuals, renal failure usually occurs in the third decade. Classically, there are three phases of renal disease. In phase I (

87. Lowe's Syndrome Browse entry words starting with A, B, C, D, E, F, G, H, I, J, K, L, M, N, O, P, Q, R, S, T, U, V, W, X, Y, Z, Other characters, lowe s syndrome,. Print this article, http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/LOWES SYNDROME.

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Lowe's syndrome, (Charles Upton Lowe, 20th century, American paediatrician), (also called oculocerebrorenal syndrome), a rare X-linked hereditary disease probably due to abnormal inositol phosphate metabolism. Renal tubular dysfunction with metabolic acidosis develops, associated with delayed psychomotor development, noninflammatory arthropathy with pain and cataracts. MR shows white matter abnormalities in the periventricular area and centrum semiovale. Mild ventriculomegaly may be present and sometimes minor migration anomalies with polymicrogyria. GS The Encyclopaedia of Medical Imaging Volume VI:1 Contacts GE Healthcare Making Waves

88. BellaOnline Forums: Lowe's Syndrome Hi there, I ma teacher working with a 3 year child with bilateral cataracts who I m not sure but may have some features of lowe s syndrome. http://www.bellaonline.com/code/ubb/noncgi/ultimatebb.php?ubb=get_topic;f=58;t=0

89. Lowe's Syndrome - General Practice Notebook lowe s syndrome. lowe s syndrome is an X linked condition in which there is a Fanconi syndrome with decreased urinary ammonia, organic http://www.gpnotebook.co.uk/cache/-355467220.htm

Lowe's syndrome Lowe's syndrome is an X linked condition in which there is a Fanconi syndrome with decreased urinary ammonia, organic aciduria, and sometimes a heavy proteinuria. Click here for more information...

90. UMB 1192 CASE IDENTIFICATION CODE. UMB 1192. DISORDER lowe s syndrome AGE 22 year(s) 132 day(s) SEX Male RACE Caucasian POST MORTEM INTERVAL 21 hour(s) CAUSE OF DEATH http://medschool.umaryland.edu/BTBank/UMB_1192.htm

UNIVERSITY OF MARYLAND BRAIN AND TISSUE BANK FOR DEVELOPMENTAL DISORDERS email: btbumab@umaryland.edu phone: 1-800-847-1539 CASE IDENTIFICATION CODE UMB#1192 DISORDER: Lowe's Syndrome AGE: 22 year(s) 132 day(s) SEX: Male RACE: Caucasian POST MORTEM INTERVAL: 21 hour(s) CAUSE OF DEATH: Complications of Disorder KARYOTYPE AVAILABLE? No FINDINGS: HIV STATUS: (no test results) HBSAG STATUS: (no test results) LENGTH OF TIME IN STORAGE AS OF MARCH 2004: 1378 days AVAILABLE TISSUE ....FIXED.... BRAIN (Protocol Method 2) CEREBRUM- Hemi Coronal Section(2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 22, 24, 26, 28, 30), MID BRAIN/PONS- Section(2, 4, 6, 8, 10), CEREBELLUM- Section (2, 4, 6, 8, 10) OTHER ORGAN SYSTEMS (not available) ....FROZEN.... BRAIN (Protocol Method 2) CEREBRUM- Hemi Coronal Section(1, 3, 5, 7, 9, 11, 13, 15, 17, 19, 21, 23, 25, 27, 29, 31), MID BRAIN/PONS- Section(1, 3, 5, 7, 9), CEREBELLUM- Section(1, 3, 5, 7, 9) OTHER ORGAN SYSTEMS GASTROINTESTINAL- (Liver), MUSCULO SKELETAL- (Psoas), URINARY- (Kidney)

91. Rheumatology -- Hofbauer Et Al. 40 (1): 107 Letters to the Editor. Identical twins with hypercalcaemia due to lowe s syndrome. The oculocerebrorenal syndrome of lowe. Adv Pediatr1990;3875–107. http://rheumatology.oupjournals.org/cgi/content/full/40/1/107

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: PDF Version of this Article Email this article to a friend Similar articles found in: Rheumatology Online PubMed PubMed Citation Search PubMed for articles by: Hofbauer, L. C. Heufelder, A. E. Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: Other Rheumatology Rheumatology 2001; 40: 107-108 British Society for Rheumatology Letters to the Editor Identical twins with hypercalcaemia due to Lowe's syndrome L. C. Hofbauer C. Nies and A. E. Heufelder Division of Endocrinology and Department of Surgery, Philipps University, Marburg, Germany S IR , We describe the unusual diagnosis of Lowe's syndrome (oculocerebrorenal syndrome) in identical twins at age 46 yr, who were referred to our institution for evaluation of hypercalcaemia and bone pain. Two 46-yr-old identical twin brothers presented with a 1-yr history of hypercalcaemia. Both had grown up in a foster care family and had required chronic haemodialysis for end-stage kidney disease of unknown aetiology for 9 and 10 yr, respectively.

92. Redirect http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?309000

93. ORPHANET - Maladies Rares - Médicaments Orphelins http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=534

94. Gimenei >> Health >> Conditions_and_Diseases >> Genetic_Disorders >> Lowe_Syndro Gimenei.com, Search for Scope All Words, Results per page 10. Request Timeout 2, http://www.gimenei.com/directory/top/Health/Conditions_and_Diseases/Genetic_Diso

Search for: Scope: All Words Any Word Phrase Results per page: Request Timeout: Search Depth: Gimenei Health Conditions and Diseases Genetic Disorders Lowe Syndrome Book: Atlas of Uncommon Pain Syndromes - Bucket Blast is so much fun. My husband and I had a blast playing one of the games with the kids. There are different games that can be played with this one game, so kids don't become bored with it easily. There are games that can be played inside and outside. We've really enjoyed Bucket Blast Toy: Don't Make Me Laugh 2nd Edition Game - This was the perfect game to play at a family gathering of all adults! We were in need of a good laugh and cheering up, so I brought out the game ...and the laugh never stopped! (Even though the goal at times is to NOT laugh!) The scenarios on the playing cards are very creative. The diverse rules gets everyone involved. That's what I liked the most. The playing pieces are very colorful and the new rules make it even easier to play. It's truly the perfect party game. Our family will definitely play it again and again! Toy: Don't Make Me Laugh Jr. Game

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