41. Worldbook Medical Encyclopedia > Gait - Gynecomastia > Gauchers Disease Similar pages gauchers and alternative therapies anyone would like to share about gauchers disease and their experiencesof treating their vaying symptomatologies with alternative therapies. http://www.surfablebooks.com/wbmedical/31380/31403/1.htm

Worldbook Medical Encyclopedia Gait - Gynecomastia Gauchers disease Gauchers disease Search the Web with All Surfable Books World Book Encyclopedia 2000 World Book Medical Encyclopedia Geography History Humanities Industry and Technology Life Science Physical Science and Math Recreation Social Science Documents 1 - 10 of 43 on the subject : Gauchers disease Public Educational Sources News and Magazines Encyclopedias Living with Gaucher Disease Living with Gaucher Disease Living with Gaucher Disease :A guide for patients, parents, relatives, and friends. Contents. ... What is the history of Gaucher disease ? ... http://neuro-chief-e.mgh.harvard.edu/gaucher/living.html Gaucher Disease History; what is Gauchers disease? In... Gauchers disease? In 1882,... onset... special processing compartment... disease is an inherited metabolic disease. Gaucher's... nervous system (CNS) complications in addition... After the woman's death, Gaucher examined... "Gaucher cells." The disease marked... Type I. CNS complications begin... called Gaucher's disease. In 1924,... patients with Gaucher's disease. A French physician,... Classification Gaucher's disease is an inherited... http://www.geocities.com/essy/gaucher.html

42. 1300 (known) Metabolic Diseases Fucosidosis Galactokinase Deficiency Galactosaemia Gangliosidosis GM1 GangliosidosisGM2 (Hexosaminidase A Deficiency) gauchers disease Gilberts Disease http://soundwithvision.com/Home/Projects/Kleine_Kus/1300dis/1300dis.html

1300 (known) Metabolic Diseases (from Research Trust for Metabolic Diseases in Children) The list... Abetalipopprotinaemia Achondroplasia Adenosine Deaminase Deficiency Adrenal Hyperplasia Adrenal Hypoplasia Aicardi-Goutieres Syndrome Alagille Syndrome Alcaptonuria Alpers Disease Alpha One Antitrypsin Deficiency 5 Alpha Reductase Deficiency Alports Syndrome Alstroni s Disease Amyloidosis Androgen Insensitivity Arachidonic Acid, Absence of: Arginase Deficiency Arginosuccinic Aciduria (ASA) Aromatic amino acid decarboxylase deficiency Arterial Calcification of Infancy Occlusive Infantile Arteriopathy Arylsulphatase A Deficiency Aspartyl Glucosaminuria Ataxia Telangiectasia Bartters Syndrome Batten's Disease Berardinelli Lipodystrophy Syndrome Beta Ketothiolase Deficiency 2 Methylacetoacetyl CoA Thiolase Deficiency Beta-Methylcrotonylglycinuria Biliary Hypoplasia Biotin Deficiency CI Esterase Deficiency Carbamyl Phosphate Synthetase Deficiency (CPS) Carbohydrate Deficient Glycoprotein Syndrome Carnitine Deficiency Carnitine Palmitoyltransferase Deficiency Cerebrotendinous Xanthomatosis Chondrodysplasia Punctata Citrullinaemia Cobalamin C/G Deficiency Cockayne Syndrome Crigler Najjar Syndrome type I Cystinosis Cystinuria Cytochrome C Oxidase Deficiency Diabetes Insipidus Dysmyelination Endocardial Fibroelastosis Ethylmalonic Aciduria Ethylmalonic Adipic Aciduria Farbers Disease Fabry's Disease Fanconi's Syndrome Fish Odour Syndrome (Trimethylamineuria)

43. Medichecks . Com - Helplines By Condition Helplines by Condition. gauchers disease. Glaucoma. Glycogen StorageDisease GuillainBarre Syndrome. Home Terms Conditions Privacy http://www.medichecks.com/helplines.cfm?ltr=G

44. Untitled Gaucher's disease Advances and challenges. Adv Pediatr 36277, 1989 IncertiC gauchers disease an overview. Semin Hematol 3210, 1995. http://wwwpathnet.medsch.ucla.edu/med-edu/pathrev/casestudy/case12/case12a.htm

45. FI-N-0801-01 Other diagnosis than Lipidosis, gauchers disease. Reason for Denials. NoncoveredDiagnosis. Other diagnosis than Lipidosis, gauchers disease. Coding Guidelines. http://www.ahsmedicare.com/medical_review_appeals/provider/LMRP/archived/FI-N-08

Associated Hospital Service To Archived Policies Contractor’s Policy Number FI-N-0801-01 Contractor Name Associated Hospital Service Contractor Number Contractor Type Fiscal Intermediary LMRP Title AMA CPT HCFA National Coverage Policy Title XVIII of the Social Security Act, Section 1833 (e). This section prohibits Medicare payment for any claims that lacks the necessary documentation to process the claim. Title XVIII of the Social Security Act, Section 1842(a)(2)(B). This section requires the carrier to assist physicians/suppliers of services to develop and study utilization practices and their effectiveness; and to assist in the application of safeguards against unnecessary utilization. Title XVIII of the Social Security Act, Section 1862 (a)(1)(A). This section states that no Medicare payment shall be made for items or services that are not reasonable and necessary for the diagnosis or treatment of illness or injury. The Medicare Program interprets the phrase "reasonable and necessary" to mean that an item or service is "safe and effective, not experimental or investigational, and appropriate " (Program Integrity Manual, Section 3.2.2.1.F: "Service Limited by LMRP: Frequency and Duration of Use of Service," www.hcfa.gov/pubforms/83_pim/c03.htm#_1_15). Title XVIII of the Social Security Act, Section 1862 (a)(7). This section excludes coverage for routine physical checkups.

46. Gaucher's Disease value of ceredase, have asked us to make readers of this page aware of the availabilityof a Helpline for Clinicians based at the gauchers disease Clinic at http://www.bham.ac.uk/arif/gaucher.htm

Gaucher's Disease Ceredase/Cerezyme Table of Contents The Problem Submitted For ARIF To Advise Upon Reviews Identified Comments WARNING The following information is only a very brief summary of that available. It is primarily designed to give readers a starting point to consider research evidence in a particular area. Readers should not use the comments made in isolation and should have read the literature suggested. Readers should also be aware that more appropriate reviews may have become available since the request was dealt with. ARIF does not routinely update the advice on these pages. The Problem Submitted For ARIF To Advise Upon What is the evidence of effectiveness and cost effectiveness of Ceredase (Alglucerase) or Cerezyme (Imighicerase) in the treatment of Gaucher's disease? Return to Table of Contents Reviews Identified Bryant J, Hallam L. Ceredase in the treatment of Type 1 Gaucher’s disease. Winchester: Wessex Institute of Public Health Medicine, Development and Evaluation Committee Report No 49, 1996. pp13. Return to Table of Contents Comments Response to this request was co-ordinated by the Department of Pharmacy Policy and Practice, University of Keele. The DEC report provides a useful summary of the relevant issues.

47. ClinicalTrials.gov - Linking Patients To Medical Research Search Individual Terms, Count. NINDS Gaucher's Disease Information Page , None. Gaucher'sDisease Also searched gaucher syndrome gauchers disease kerasin lipoidoses http://www.clinicaltrials.gov/search/term=NINDS Gaucher's Disease Information Pa

48. URCN Molecular Neuroscience MSc Unit 5 Neuropsychiatric disorders (eg schizophrenia, depression); Metabolic disorders(eg lipidgauchers disease, Tay Sach, amino acid phenylketonuria, Porphyrias). http://www.bris.ac.uk/Depts/URCN/msc/units/unit5.html

University of Bristol URCN homepage Neuroscience MSc home Course structure Search the site URCN MSc: Disorders of the nervous system Email directory Travel directions Jobs @ URCN Send page to a colleague ... Unit 4 Unit 5 Unit 6 Unit 7 Get the prospectus Apply now! ... URCN Administration Unit 5 - Degenerative and psychiatric disorders of the nervous system This unit will cover: Neurodegeneration leading to dementia (e.g. AD, TSE, CADSIL Lewy body dementia) Non-dementing neurodegeneration affecting movement (e.g. Parkinson's disease, Huntingdon's disease) Neurodegeneration involving predominantly peripheral changes (e.g. Multiple Sclerosis) Neuropsychiatric disorders (e.g. schizophrenia, depression) Metabolic disorders (e.g. lipid-Gauchers disease, Tay Sach, amino acid phenylketonuria, Porphyrias) The aims and objectives of this unit are to: Provide a basic understanding of the molecular mechanisms of neurodegenerative and psychiatric disease processes; Provide and understanding of the underlying similarities between neurodegenerative disorders;

49. Diseases Cystic Fibrosis. Down's Syndrome. gauchers disease. National electronic Library forRare Diseases (NeLRARE). Mental health, Bipolar Education. Mental Health Matters. http://www.show.scot.nhs.uk/gghbpharmacy/links/Diseases.htm

Therapeutic Specialties These links are not maintained by Glasgow Pharmacy. We can accept no responsibility for their content. If you find that a link is out of date please contact us Click on headings to expand/collapse lists Anaphylaxis/ Allergy Anaphylaxis Campaign British Allergy Foundation Food Allergy and Food Intolerance Information Site Latex Content database ... National Eczema Society Arthritis Arthritis Research Council British Society for Rheumatology National Osteoporosis Society Cancer American Society of Clinical Oncology Cancer Awareness In Scotland Cancer BACUP Cancer in Scotland website ... Palliative Drugs Cardiovascular American College of Cardiology Blood Pressure Association Family Heart Association British Heart Foundation ... The Stroke Association GastroIntestinal British Society for Gastroenterology Coeliac Disease Resource Centre Digestive Disorders Foundation Inherited Diseases / Syndromes Cystic Fibrosis Down's Syndrome Gauchers Disease National electronic Library for Rare Diseases (NeLRARE) Mental health Bipolar Education Mental Health Matters National Schizophrenia Fellowship (Scotland) Royal College of Psychiatrists ... Scottish Mental Health Research Network Neurology Alzheimer Scotland Epilepsy Association of Scotland Epilepsy Research Group Headway - the Brain Injury Association ... Trigeminal Neuralgia Association Ophthalmology

50. Diseases Childhood Cancer; Children Living With Inherited Metabolic Diseases; CysticFibrosis; ECMO; gauchers disease; Meningitis Research Organisation; http://www.show.scot.nhs.uk/nppg/links/diseases.htm

Diseases Captain Chemo Cancer Research Uk - Children's cancers Children's Cancer Web - a guide to Internet resources for Childhood Cancer Children Living With Inherited Metabolic Diseases ... RSV Info

51. Daniel I. Rosenthal, MD (1991) Computed Tomography and MRI in gauchers disease. In Bloem JL, SartorisD (ed), Magnetic Resonance Imaging and CT of the Musculoskeletal System. http://gaucher.mgh.harvard.edu/CV/Rosenthal.html

Daniel I. Rosenthal, MD Gaucher Treatment Center: Massachusetts General Hospital Gaucher Treatment Program Professional's Name: Daniel I. Rosenthal, MD Title: Director, Bone and Joint Radiology, Associate Radiologist-in-Chief Operations Hospital Appointments: Director, Bone and Joint Radiology, MGH Teaching Appointments: Associate Professor of Radiology at MGH, HMS Mailing Address: MGH, White 289 Telephone Number: Patient Office Phone Number: Patient Office Location: N/A Email: rosenthald@helix.mgh.harvard.edu Fax Number: WWW Server Address (if available): http://gaucher.mgh.harvard.edu/ Undergraduate Education: B.A. Yale University 1970 Medical School: M.D. Yale Medical School 1974 Residencies and Fellowships: Beth Israel Hospital, Intern in Surgery 1974-75; Beth Israel Hospital, Resident in Radiology 1975-78; Beth Israel Hospital, Chief Resident, Radiology 1977-78 Certification by an American Specialty Board: American Board of Radiology 1978 Research Interests: Morphologic foundations of x-ray diagnosis of bone disease, Quantification of skeletal mass and composition, Bone and soft tissue tumores: diagnosis and treatment, Digital radiology/teleradiology, Gaucher disease Clinical Interests: N/A Representative Publications: O'Keeffe D, Rosenthal DI. (1991) Computed Tomography and MRI in Gauchers Disease. In: Bloem JL, Sartoris D (ed), Magnetic Resonance Imaging and CT of the Musculoskeletal System. Williams and Wilkins, Baltimore, chap 11:130-138.

52. Outline For Lecture #6  defective. Examples gauchers disease TaySachs disease. In these 6.Use of Salvage Pathway to treat gauchers disease. In cells with http://www.columbia.edu/cu/biology/courses/c2006/lectures/lect6.03.html

C2006/F2402 '03 Outline For Lecture #6 (c) 200 Last update 02/05/2003 03:24 PM Handouts: Co-translational Import How proteins insert into ER membrane . (You'll also need 5B ). I. Labeling, cont. How do you follow material through the cell? See last lecture, topic IV fro details. II . Sorting of Proteins to their Proper Place: Overview A. What determines the fate (final location) of each individual protein? The amino acid sequence of the protein. The ability of each protein to reach its proper destination is built into the protein itself. The presence (or absence) of localization signals in the amino acid sequence is the determining factor. 1. What's a localization signal: a group of amino acids acting as an "address" or "tag" directing the protein to a particular destination. 2. Terminology: The localization signal or "tag" is usually called a localization sequence (if it consists of a continuous section in the peptide chain) or a patch (if it consists of a contiguous section in the folded protein). 3. Use of tags:

53. CSAHS - CSLS - Handbook Search PATH. GALACTOSIDASEALPHA, ADW CH-SA CHEM PATH. gauchers disease -PCR, ADW CH-SA CHEM PATH. GLUCOCEREBROSIDASE-BETA, ADW CH-SA CHEM PATH. http://www.cs.nsw.gov.au/csls/handbook/searchres.asp?TEST_GRP=LYSOSOMAL TESTS

54. Lab. Diagnosis Of And Genetic Counseling For Gaucher Disease 25. Zimran A, Sorge J, Gross E, et al. Prediction of severity of gauchers diseaseby identification of mutations at DNA level. Lancet. 1989;2349352. 26. http://spauldingrehab.mgh.harvard.edu/gaucher/clinicalperspectives/April1996/lab

Gaucher Clinical Perspectives - Vol 4, No 2 - April 1996 Laboratory Diagnosis of and Genetic Counseling for Gaucher Disease Erin O. Rice, MS, and John A. Barranger, MD, PhD Department of Human Genetics, University of Pennsylvania, Pittsburgh, Pennsylvania Gaucher disease (GD) is divided into three subtypes based on clinical signs and symptoms: Type 1 (nonneuronopathic), Type 2 (acute neuronopathic), and Type 3 (subacute neuronopathic). [ l ] All three types of GD are caused by a deficiency of gluco-cerebrosidase (GC) resulting in the accumulation of glucosylceramide within the cells of the reticuloendothelial system. The principal difference among the types is the presence and progression of neuro-logic complications. The symptoms of any type may begin in infancy; however, the designation of clinical subtype is made on the basis of clinical manifestations in the nervous system and is a more appropriate classification than one based on age at onset (Table 1) . The assignment of type, especially in children, should he made only after a careful examination of the presence and progression of related neurologic abnormalities because of the significant differences in prognosis.

55. Inborn Genetic Disorders Which Can Benefit From A Bone Marrow Transplant gauchers disease This inherited disorder is divided into three clinicalsubtypes adult, childhood and infantile forms. There can http://www.anthonynolan.org.uk/ndonors/diseases/all_inborn.html

The Anthony Nolan Trust where leukaemia meets its match Hurlers / Hunters These are inherited enzyme deficiency which are usually diagnosed in infancy. They have typical facial appearances with progressive mental retardation, multiple bony problems and later cardiac involvement. Death occurs usually in the sufferers first or second decade of life. Metachromatic Leucodystrophy Again, an inherited enzyme deficiency, but presenting in several clinical forms depending on the age of onset. Mental function, speech and mobility deteriorate at different rates with death a few years after onset in the late infantile form. Adrenoleucodystrophy The absence of the enzyme in this disease results in a protracted central nervous system deterioration. It is an inherited condition which usually presents in the first decade of life, with a peak at age seven. Gauchers Disease This inherited disorder is divided into three clinical subtypes - adult, childhood and infantile forms. There can be cerebral involvement in addition to enlargement of the liver and spleen and the bones may also become pathologically weak, resulting in fractures. A single enzyme missing is agin the underlying cause

56. Feedback/Contact Us - Who Are We? exstrophy Craniofacial surgery Epidermolysis bullosa Extracorporeal Membrane Oxygenation(ECMO) Cardiothoracic transplantation gauchers disease Severe combined http://www.ich.ucl.ac.uk/gosh/who_are_we.html

Feedback/Contact us Contact Information Frequently Asked Questions Who are we? About the site ... Publications Who are we? The Hospital Chief Executive: Dr Jane Collins The hospital offers the widest range of paediatric specialties in the country, including 21 medical, 11 surgical and eight diagnostic specialties, plus eight paramedical and other clinical support services including pharmacy, physiotherapy, psychology, dietetics and speech and language therapy. Our specialties also include: Bladder exstrophy Craniofacial surgery Epidermolysis bullosa Extracorporeal Membrane Oxygenation (ECMO) Cardiothoracic transplantation Gauchers disease Severe combined immunodeficiency Clinical genetics Molecular genetics laboratory Cytogenetics laboratory Neonatal laboratory Cleft lip and palate Maxillo-facial and dental surgery Spinal surgery Paediatric Cochlear Implant Programme Vestibular rehabilitation Cystic fibrosis Paediatric intensive care Pain Control Service Renal transplantation Haematology Haemophilia Blood and marrow transplantation HIV The Institute Dean: Dr David Latchman The institute is the leading British academic research institution for child health.

57. Class Notes of the Gauchers Association, has been awarded the OBE for services to the GauchersAssociation which represents sufferers of gauchers disease, a genetically http://www.wgaalumni.co.uk/m5/network/10/class.htm

Anders Clausager (MA History 1997-99) has been appointed to the newly created position of chief archivist of The Jaguar Daimler Heritage Trust. He is responsible for developing the Trust’s expertise as a museum and centre for academic excellence. He was previously with the British Motor Industry Heritage Trust and has published 14 motoring books including Le Mans, Jaguar – The Living Legend. Heinz European Sauces have appointed Robin Walker (Economics 1972-75) as managing director of the largest pan-European category in the company. His previous position was as director of European convenience meals. Head teacher June Rowe (Cert. Ed 1972-74, B.Phil Ed 1987-90) went to a special reception at Buckingham Palace hosted by the Queen and Duke of Edinburgh as a thank you for her work to raise classroom standards following praise by OFSTED inspectors. She has been head teacher of Allesley Primary School in Coventry for six years and in the past 18 months has achieved Investor in People status and won an Eco-School award for its positive work to improve the environment. Tim Stidwill (BEng Engineering (Civil) 1992-95) achieved success in the Institution of Civil Engineers Chartered Professional Review (CPR) at his first attempt and only four years after graduation. He is believed to be one of the youngest chartered engineers in the country and has just become a Chartered Member of the Institute of Structural Engineers (MIStructE).

58. LifeMed 1.2.2, Multiple Sclerosis, Cystic Fibrosis, gauchers disease, Sheehan’s Syndrome,Crohn’s Disease and Guillain Barré Syndrome, – annual limit of R10 000 http://www.status.co.za/websites/lifemed/products/core.asp

Core Plan Benefits M M+1 M+2 M+3+ M+4+ STATUTORY PRESCRIBED MINIMUM BENEFITS (PMB)  100% COST For services rendered by Public Hospitals paid in terms of the PMB criteria OVERALL ANNUAL LIMIT ANNUAL Pre-authorisation required 48 hours in advance for all elective procedures failing which, a co-payment of R500 per admission will apply 100% RSOB Subject to overall annual limit · Theatre Fees 100% RSOB Subject to overall annual limit · Medication (only whilst in hospital) 100% RSOB Subject to overall annual limit · Surgical Procedure 100% RSOB Subject to overall annual limit · Visits by GP and Specialist 100% COST R5 000 per family per annum / subject to overall annual limit · Renal Dialysis See Special Limitations below · Clinical Technologist · Radiology · Pathology · Confinements: - Normal Birth 100% RSOB Subject to overall annual limit - Caesarian Section 100% RSOB Subject to overall annual limit · Blood Transfusion See Auxiliary Services below · Psychiatric Treatment No benefit available · Hospice 100% GWR Subject to overall annual limit 100% RSOB Subject to overall annual limit 100% RSOB Subject to overall annual limit 100% RSOB Subject to overall annual limit 100% RSOB Subject to overall annual limit

59. Compcare 1.2.6, Multiple Sclerosis, Cystic Fibrosis, gauchers disease, Sheehan’s Syndrome,Crohn’s Disease and Guillain Barré Syndrome, – annual limit of R10 000 http://www.status.co.za/websites/compcare/products/status_100_package.htm

Member Login Application Form Excess Excess Direct ... Member Validation Status Package for 2003 Benefits M M+1 M+2 M+3+ STATUTORY PRESCRIBED MINIMUM BENEFITS (PMB)  100% COST For services rendered by Public Hospitals paid in terms of the PMB criteria Pre-authorisation required – call 0860 111 090  Pre-authorisation required 48 hours in advance for all elective procedures failing which, a co-payment of R500 per admission will apply. · Ward fees – General; ICU; High Care – paid at applicable ward rate 100% RSOB Unlimited · Theatre Fees 100% RSOB Unlimited · Medication (only whilst in hospital) 100% RSOB Unlimited · Surgical Procedure 100% RSOB Unlimited · Visits by GP and Specialist See below (Medical Practitioners – In Hospital) · Surgical Prostheses – e.g. artificial joints; artificial limbs; pacemakers

60. Gloria: In The Mood For A Little White Food In The Temple of Genes Eric came with me to Mt. Sinai Hospital forthe Tay Sachs/gauchers disease test with his mule heels dug in. http://www.thecouch.com/diaries/gloria/diary.11.12.1996.html

DIARIES Passion is the Healer Squirt Down my Leg In the Mood for a little White Food Hormonal Marriage ... Circle of Fire W e d n e s d a y , D e c e m b e r 1 1 White Food "Last time I was pregnant, I gave up Diet Coke during my pregnancy. And you know what?" Ellen's question radiated out over the phone from her tiny cubicle in the towering media complex on Madison Avenue. "As much as I missed my late parents during my pregnancy-and I missed them desperately, I missed Diet Coke more. Gloria, fuck everyone who tells you what to eat when you're pregnant." She was referring to the best-selling pregnancy guide What to Expect When You're Expecting . The book had become my Bible. Ellen said she got tired of the tone. The tone was this: quit caffeine, no alcohol, don't gain more than twenty pounds. Go on the diet conceived by the author. The diet consisted of fruitcakes, protein dishes and other sugarless, cheerless, super healthy fare. Ellen had delivered by c-section first time and was scheduling her second by c-section too. The operation would be followed by a Mount Sinai gourmet Stork Dinner of steak and champagne which came compliments with private rooms. Only problem: she wasn't pregnant yet. She'd been trying for months. My friend, Mary Beth, after one c-section, now in her second pregnancy, was doing the same thing. These two friends of mine both agreed. "No labor for me, boys. Not after all that huffing and puffing and pain the first time only to wind up sliced by the knife."

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