81. Oculocerebrorenal Syndrome lowe syndrome is a genetic disorder, mainly to be found in boys, The Web siteof the lowe syndrome Trust provides more information about this rare http://omni.ac.uk/browse/mesh/D009800.html

low graphics Oculocerebrorenal Syndrome other: Acidosis, Renal Tubular UK Lowe syndrome trust Lowe syndrome is a genetic disorder, mainly to be found in boys, characterised by multiple mental and physical handicaps. The eyes the nervous system and the kidneys are affected, giving the alternative clinical name of Oculocerebrorenal Syndrome. The Web site of the Lowe Syndrome Trust provides more information about this rare disorder, its clinical manifestations, and the treatment and care of children who suffer from it. Information is given on the Trust's support for research, its fundraising and other activities. There are links to other useful sites and pages for parents of Lowe Syndomr children. Oculocerebrorenal Syndrome Last modified: 09 Sep 2005

82. Lowe Report lowe syndrome is a rare handicapping disorder inherited in an Xlinked Using Cytogenic and DNA techniques - to attempt to map the lowe syndrome gene on http://bpsu.inopsu.com/Lowe report.htm

Lowe (Oculocerebral) Syndrome Background Lowe syndrome is a rare handicapping disorder inherited in an X-linked recessive manner. Affected males are severely mentally retarded, visually handicapped (due to congenital cataracts and sometime glaucoma) and have aminoaciduria often with secondary rickets. The underlying biochemical abnormality is unknown and the diagnosis remains a clinical one. Objectives To estimate the prevalence and natural history of the condition in the British Isles Using Cytogenic and DNA techniques - to attempt to map the Lowe syndrome gene on the X chromosome Case definition Males with a) congenital cataracts and/or glaucoma and b) aminoaciduria and c) mental retardation Females with the same features who may have Turner syndrome or an X chromosome abnormality. Results In the course of the study, 27 confirmed cases were identified in the UK and the natural history of the 26 children in whom there were adequate data is presented. The 26 comprise one girl and 25 boys. 15 are familial cases from 10 families, and the remaining 10 are isolated cases. Clinical data was analysed separately for the two groups but the only differences found related to early investigation and diagnosis. The clinical course was the same in the two groups Ages ranged from 7 months to 32 years. Birth weight was normal but subsequent growth was poor particularly after the first year. Even boys who had optimally correct renal tubular acidosis remained well below the 3rd centile for height. Weight was relatively less affected and head circumference remained in the normal range. A consistent pattern of dysmorphic features emerged which became more pronounced with age.

83. Page Title can t believe it has been a year since we received the lowe syndrome (LS) diagnosisfor over the LS website I had no doubt that Kyle had lowe syndrome. http://www.main.org/txp2p/2003News/page31.html

Newsletter Index Home The Search for a Diagnosis By Debbie Jacobs, Dallas, Tx can't believe it has been a year since we received the Lowe Syndrome (LS) diagnosis for our son, Kyle, and my husband, Greg, Kyle and I headed off to the 2002 LSA conference in Chicago. It took us almost 12 years to receive the LS diagnosis and, during that time, we always questioned Kyle's medical and behavioral difficulties. Kyle was born October 19, 1990, two months premature and spent 4 weeks in the NICU. During those long hours and days, Kyle went through many tests and we were told he had cerebral palsy. The doctors explained he had damage to his white brain matter (cerebral palsy) and peripheral cataracts due to being on the ventilator for an extended period of time. When we finally brought Kyle home he was on an apnea monitor for the first 12 months because, at times, he forgot to breathe. As parents of a child that required constant medical attention, we knew our son had a long road ahead of him. The doctors believed Kyle would be delayed, but given time along with extensive therapy, he would catch up. We enrolled him in every form of therapy recommended by his doctors. We engaged him in play groups, early childhood schooling and social activities that we believed would enable him to play catch up. Kyle was unable to hold his head up until he was almost 9 months old. He didn't sit unassisted until almost 12 months and he didn't crawl and walk until many years later. We watched as Kyle grew and rejoiced at the milestones that are taken for granted by most parents.

84. House Of Commons Hansard Written Answers For 14 Dec 2004 (pt 25) (3) what the life expectancy is of a child born with lowe syndrome; 203274.(4) what the causes are of lowe syndrome; 203275 http://www.parliament.the-stationery-office.co.uk/pa/cm200405/cmhansrd/cm041214/

Search Advanced Search Home Glossary Index ... Parliament Live section... Parliamentary Publications and Archives Site Map Bills Hansard Directories Frequently Asked Questions Judicial Work Previous Section Index Home Page Long-Term Care (Greater London) Tom Cox: To ask the Secretary of State for Health how many older people are in receipt of long-term care within the Greater London area. [204094] Dr. Ladyman: Information about the number of places in residential care is collected, but information about the number of people in those places is not centrally available. In March 2001, there were 30,800 care home places in London for adults aged 65 and over. This includes places in residential care homes, general and mental nursing homes, private hospitals and clinics. I understand from the Chair of the Commission for Social Care Inspection (CSCI) that figures for later years were collected by the National Care Standards Commission, and now CSCI, but comparable details are not available. Lowe Syndrome Tim Loughton: To ask the Secretary of State for Health (1) how many children are diagnosed each year with Lowe syndrome in England; [203271]

85. GMTV - Helping Oscar Dundee University s pioneering work into lowe syndrome. The lowe syndromeTrust is a UK Charity that was formed in June 2000 as an affiliate of the USA http://www.gm.tv/index.cfm?articleid=10465

86. Association Du Syndrome De Lowe Translate this page Association du syndrome de lowe. Association du syndrome de lowe. mise à jourle 14/10/04. Nombre de Visiteurs http://membres.lycos.fr/asl/

Association du syndrome de Lowe. Nombre de Visiteurs :

87. Lowe's Syndrome (www.whonamedit.com) lowe s syndrome Oculocerebrorenal dystrophy syndrome characterised by severepsychomotor retardation with growth and mental retardation/deterioration, http://www.whonamedit.com/synd.cfm/3512.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Lowe's syndrome Also known as: Lowe-Terrey-MacLachlan syndrome Lowe-Bickel syndrome Synonyms: Organic aciduria ammonia syndrome, reduced renal production syndrome, oculocerebrorenal dystrophy, renal-oculocerebro-dystrophy syndrome. Associated persons: Charles Upton Lowe Elsie A. McLachlan Mary Terrey Description: Oculocerebrorenal dystrophy syndrome characterised by severe psychomotor retardation with growth and mental retardation/deterioration, hyperactivity with bizarre choreoathetoid movements, and screaming. Affected persons have small eyes, congenital glaucoma, congenital bilateral cataracts, strabismus, abnormal enlargement of the eyes, muscular hypotonia, loss of reflexes. There is renal tubular dysfunction which causes proteinuria, amine aciduria and acidosis. Blindness; no deafness; Affects almost exclusively males. Symptoms apparent in very early infancy. X-linked familial syndrome transmitted by heterozygous female. Bickel, see Fanconi-Bickel syndrome, under Guido Fanconi, Swiss paediatrician, 1892-1979.

88. Healthfinder® - Lowe's Syndrome Carefully selected government and nonprofit health information on lowe s syndrome. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=505

89. Lowe Syndrome Information Diseases Database lowe s syndrome,loweTerry-MacLachlan syndrome,Oculocerebral syndrome,Oculocerebrorenalsyndrome,lowe-Bickel syndrome, Disease Database Information. http://www.diseasesdatabase.com/ddb29146.htm

Diseases Database Index Sponsors Contact ... Previous Page Lowe syndrome information Search 5 synonyms or equivalents were found. Lowe syndrome aka/or Lowe-Bickel syndrome aka/or Lowe-Terry-MacLachlan syndrome aka/or Oculocerebral syndrome aka/or Oculocerebrorenal syndrome may cause or feature (Follow link for list.) belong(s) to the category of (Follow link for list.) Lowe syndrome: Definition(s) via UMLS Code translations and terms via UMLS Lowe syndrome: specific web sites Send Lowe syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 10:30:32 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition!

90. Lowe S Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume IV 2/LOWES SYNDROME.

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com 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 (

91. Lowe S Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/LOWES SYNDROME.

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com 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 Corporate Products Financial Services Our Commitment ... Terms of Conditions

92. Charity Glossary lowe s syndrome Association 29 Gleneagles Drive, Penwortham, Preston, Lancashire,PR1 0JT Tel 01772 745070. Promotes the welfare, and aims to maximise the http://www.ivillage.co.uk/ivillageuk/tools/charity_gloss/0,,4-1206-L-,00.html

var cimsCid = '165906'; var cimsUid = ''; iv_hideTacoda = true; Search iVillage for: Home Join free Horoscopes Quizzes Related Topics: Relationships Parenting more ... You are here iVillage.co.uk ivillageuk tools charity glossary Competitions Free newsletters Join iVillage Virtual makeover ... Send an eCard Beauty Health more newsletters A B C ... W L Language Disorders Lowe's Syndrome Law and Justice Lupus Erythematosus ... Lymphangioma Lowe's syndrome Lowe's Syndrome Association 29 Gleneagles Drive, Penwortham, Preston, Lancashire, PR1 0JT 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. send to a friend advertisers Get the latest iVillage news on your desktop Sign up for more iVillage RSS feeds iVillage Channels Community Services About iVillage Beauty Health Horoscopes Money ... Terms of Service

93. OCRL - Oculocerebrorenal Syndrome Of Lowe Mutations linked to the disease oculocerebrorenal syndrome of lowe led to theidentification of the OCRL gene. The encoded protein is a phospatidylinositol http://www.urogene.org/kgdb/gene/37.html

Human Kidney Gene DataBase Name oculocerebrorenal syndrome of Lowe Symbol OCRL Aliases LOCR; OCRL1; INPP5F Gene Product phosphatidylinositol polyphosphate 5-phosphatase isoform a phosphatidylinositol polyphosphate 5-phosphotase isoform b Category Deletion in Kidney Neoplasms Deletion in System Syndrom with Kidney Involvment Mutation in System Syndrom with Kidney Involvment UniGene Hs.126357 Reference Sequence mRNA: Protein: OMIM and SNP OMIM: SNP: NCBI SNP Locus LocusLink: Chromosome: X Cytoband: Xq25-q26.1 UCSC Genome Map Eesembl Genome Map Summary Mutations linked to the disease oculocerebrorenal syndrome of Lowe led to the identification of the OCRL gene. The encoded protein is a phospatidylinositol polyphosphate 5-phosphatase that is found in golgi cisternae. Expression EST (212 ESTs libraries Tissue Breadth CPM bone brain cartilage cervix colon embryo eye germ cell head and neck kidney liver lung lymph node mammary gland muscle nervous ovary pancreas parathyroid placenta prostate skin stomach testis uncharacterized tissue uterus vascular whole body SAGE (543632 tags libraries Tissue Breadth CPM brain mammary gland nervous prostate uncharacterized tissue Evidence Deletion in Kidney Neoplasms Kondo K, Yao M, Kobayashi K, Ota S, Yoshida M, Kaneko S, Baba M, Sakai N, Kishida T, Kawakami S, Uemura H, Nagashima Y, Nakatani Y, Hosaka M, Kondo K, Yao M, Kobayashi K, Ota S, Yoshida M, Kaneko S, Baba M, Sakai N, Kishida T, Kawakami S, Uemura H, Nagashima Y, Nakatani Y, Hosaka M

94. Lowe's Syndrome - General Practice Notebook lowe s syndrome is an X linked condition in which there is a Fanconi syndromewith decreased urinary ammonia, organic aciduria, and sometimes a heavy 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...

95. Genome.gov | Suchy Lab of Sharon Suchy s laboratory at the National Human Genome Research Institute.Research centers on understanding oculocerebrorenal syndrome of lowe, OCRL. http://www.genome.gov/10000362

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 Suchy Lab Sharon F. Suchy, Ph.D. Associate Investigator Genetic Disease Research Branch B.S. College of William and Mary, 1978 Ph.D. Medical College of Virginia, 1984 suchy@mail.nih.gov Building 49, Room 4A66 49 Convent Drive, MSC 4472 Bethesda, MD 20892-4472

96. Arch Neurol -- Abstract: Mitochondrial Defects In Lowe's Oculocerebrorenal Syndr phosphorylateoxygen ratio, indicating a partial uncoupling. These findingssuggest that lowe s syndrome could be considered a mitochondrial disease. http://archneur.ama-assn.org/cgi/content/abstract/41/2/208

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 41 No. 2, February 1984 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Gobernado JM Gonsalvez M Contact me when this article is cited Mitochondrial defects in Lowe's oculocerebrorenal syndrome J. M. Gobernado, M. Lousa, A. Gimeno and M. Gonsalvez We performed biochemical studies on isolated mitochondria from a muscle biopsy specimen in a patient with Lowe's syndrome. Respiratory controls of mitochondrial preparations with substrates reducing nicotinamide adenine dinucleotide and with a flavoprotein-linked substrate were markedly diminished, but the oxygen consumption was normal with ascorbate and tetramethylphenylenediamine as substrates, which suggested a defect in

97. Lowe, Syndrome : Sites Et Documents Francophones http://www.chu-rouen.fr/ssf/pathol/lowesyndrome.html

Lowe, syndrome Synonyme(s) CISMeF Lowe. Synonyme(s) MeSH Oculo-cérébro-rénal, syndrome Arborescence(s) Lowe, syndrome oculocerebrorenal syndrome maladies du système nerveux maladies et malformations congénitales, héréditaires et néonatales maladies urologiques et de l'appareil génital mâle métabolisme et nutrition, 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 : *association patients Lowe, syndrome de [Par Dr Aymé S (Orphanet - INSERM SC 11). Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; signes de la maladie, sites internet, dysmorphologie, conseil génétique, neurologie pédiatrique, centre d'action médico-sociale précoce, laboratoires de diagnostic, projets de recherche en cours, associations de patients ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 11/09/2003].

98. Lowe, Syndrome : Arborescences MeSH page PubMed du motclef page CISMeF du motclef http://www.chu-rouen.fr/navimesh/L/navilowesyndrome.html

Lowe, syndrome : arborescences MeSH Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF maladies du système nerveux maladie du système nerveux central encéphalopathies encéphalopathies métaboliques ... pseudohypoaldostéronisme 25 février 2005 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

99. Lowe's Syndrome: A Search For The Carrier State -- Holmes Et Al. 44 (3): 358 -- Pediatrics, 44359, 1969, lowe S syndrome, FEMALE CARRIERS, LENS OPACITIES,ORNITHINE LOADING TEST, OCULOCEREBRO-RENAL syndrome. http://pediatrics.aappublications.org/cgi/content/abstract/44/3/358

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Holmes, L. B. Articles by Efron, M. L. Pediatrics, Sep 1969, 358-364, Vol 44, No. 3 Lowe's syndrome: a search for the carrier state LB Holmes, BL McGowan and ML Efron Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114. ABSTRACT. An attempt to detect the female carriers of this X-linked disease has been carried out in three families, including two whose affected male infants were subjects of the original report of this syndrome. No lens opacities were found in two sets of parents. In the third family both parents had multiple small opacities. There was no difference in the urinary amino acid response of either the mothers or the fathers to an oral ornithine loading test. It has been concluded that neither test is reliable

100. Lowe's Syndrome - Descipher Health External Links.Retrieved from http//www.descipher.com/health/info/lowe%27s_syndrome . Views......lowe s syndrome. From Descipher Health. http://www.descipher.com/health/info/Lowe's_syndrome

Do you have lab results? Lowe's syndrome From Descipher Health Description: Table of contents showTocToggle("show","hide") 1 Synonyms 2 Cause 3 Population Distribution 4 Effects ... edit Synonyms edit Cause edit Population Distribution edit Effects edit Symptoms edit Signs edit Diagnostic Tests edit Differential Diagnosis edit Treatment edit Expected Outcome edit Prevention edit Medical References edit External Links Retrieved from " http://www.descipher.com/health/info/Lowe%27s_syndrome Views Article Discussion Edit History Personal tools Create an account or log in Check Lab Results Diseases Labs ... Terms of Service This work is licensed under a Creative Commons License . Please email webmaster@descipher.com with any comments you may have.

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