81. Onderzoeksproject RDDPT: Refsum's Disease. Titel RDDPT Refsum s disease. Samenvatting De ziekte van Refsum is een ergelijkeneurologische aandoening, gekenmerkt door opstapeling van fytaanzuur. http://www.kuleuven.ac.be/onderzoek/onderzoeksdatabank/project/3M03/3M030136.htm

Home Onderzoeks- activiteiten Onderzoeks- groepen Kerndomeinen ... English K.U.Leuven IWETO-onderzoeksdatabank Onderzoeksproject Hoofdpromotor: CASTEELS MARIA REINHILDE , lid van onderzoeksgroep Afdeling Farmacologie Titel: Samenvatting: Project nummer: Duur van het project: Contractueel onderzoek English Christelle Maeyaert Laatste wijziging:01.03.2004 URL: http://www.kuleuven.ac.be/onderzoek/onderzoeksdatabank/project/3M03/3M030136.htm

82. Research Project RDDPT: Refsum's Disease: Diagnosis, Pathology And Treatm ... CASTEELS MARIA REINHILDE, member of research team Pharmacology Section. TitleRDDPT Refsum s disease diagnosis, pathology and treatment. Project summary http://www.kuleuven.ac.be/research/researchdatabase/project/3M03/3M030136.htm

Home Research activities Research groups Key domains ... Nederlands K.U.Leuven IWETO-researchdatabase Research project Person in charge of the project: CASTEELS MARIA REINHILDE , member of research team Pharmacology Section Title: Project summary: Project number: Duration of the project: Funded research Nederlands Christelle Maeyaert Most recent update :01.03.2004 URL: http://www.kuleuven.ac.be/research/researchdatabase/project/3M03/3M030136.htm

83. NINDS Infantile Refsum Disease Information Page Infantile Refsum disease information sheet compiled by the National Institute ofNeurological Disorders and Stroke (NINDS). What is Infantile Refsum disease? http://accessible.ninds.nih.gov/health_and_medical/disorders/refsum_infantile_do

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Infantile Refsum Disease Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Infantile Refsum Disease Information Page Synonym(s): Infantile Phytanic Acid Storage Disease, Refsum Disease - Infantile Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Infantile Refsum Disease? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Infantile Refsum Disease? Infantile Refsum disease is a disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the body and by the accumulation of phytanic acid in blood plasma and tissue. Infantile Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain. Symptoms may include visual impairments including retinitis pigmentosa and nystagmus (rapid, involuntary jerky eye movements), hearing impairments, hypotonia (decreased muscle tone), failure to thrive, developmental delay, ataxia (impaired muscle coordination), hepatomegaly (enlargement of the liver), hypocholesterolemia (an abnormally diminished amount of cholesterol in the blood), and mild facial dysmorphism (abnormalities in the form and structure of the face). Onset of the disorder begins in early infancy.

84. NINDS Refsum Disease Information Page Refsum disease information sheet compiled by the National Institute of NeurologicalDisorders and Stroke (NINDS). NINDS Refsum disease Information Page. http://accessible.ninds.nih.gov/health_and_medical/disorders/refsum_doc.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Browse all disorders Browse all health organizations More about NINDS Refsum Disease Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Refsum Disease Information Page Synonym(s): Phytanic Acid Storage Disease, Heredopathia Atactica Polyneuritiformis Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Refsum Disease? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Refsum Disease? Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering—which acts as an insulator—on nerve fibers in the brain. Refsum disease is characterized by the abnormal accumulation of phytanic acid in blood plasma and tissues. (Phytanic acid is not made in the human body; it comes from the diet—dairy products, beef, lamb, and some seafood). Symptoms of the disorder may include vision impairments (retinitis pigmentosa), peripheral neuropathy, ataxia (impaired muscle coordination), impaired hearing, and bone and skin changes. Nystagmus (rapid, involuntary to-and-fro eye movements), anosmia (absence of the sense of smell), and ichthyosis (a skin disorder causing dry, rough, scaly skin) may also occur. Onset of Refsum disease varies from early childhood to age 50, however, symptoms usually appear by age 20. The disorder affects both males and females.

85. The Family Village / Library / Leukodystrophy Types of Leukodystophy Adrenoleukodystrophy, Alexander disease, Canavan disease,Krabbes disease, Metachromatic Leukodystrophy, and Refsum s disease. http://www.familyvillage.wisc.edu/lib_leukodystrophy.html

Leukodystrophy Types of Leukodystophy: Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Leukodystrophy" Who to Contact United Leukodystrophy Foundation (ULF) 2304 Highland Drive Sycamore IL 60718 (815) 895-2432 (fax) E-mail: ulf@tbcnet.com Website: http://www.ulf.org/ This is a nonprofit, voluntary health organization dedicated to providing patients and their families with information about their disease. In addition, it provides assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness; acting as an information source for health care providers; and promoting and supporting research into causes, treatments, and prevention of the leukodystrophies. The ULF is supported solely by donations. Where to Go to Chat with Others ULF List of Online Discussion Groups Krabbes E-mail Contacts Inborn Errors of Metabolism Discussion Groups Learn More About It Adrenoleukodystrophy From PEDBASE Alexander Disease From Online Mendelian Inheritance in Man (OMIM) Canavan Disease From Online Mendelian Inheritance in Man (OMIM) Canavan's Disease From PEDBASE Krabbe Disease From Online Mendelian Inheritance in Man (OMIM) Krabbes Disease: Basic Information From the Krabbes Disease Homepage Metachromatic Leukodystrophy From PEDBASE

86. Program Nr 1644 Identification of a second locus for Refsum s disease at chromosome 6p2224. The soleenzyme abnormality in Refsum s disease is a deficiency in PAHX activity. http://www.faseb.org/genetics/ashg00/f1644.htm

Program Nr: 1644 Identification of a second locus for Refsum's disease at chromosome 6p22-24. A.S. Wierzbicki , M. Lambert-Hammill , J. Mitchell , M. Sidey , M.D. Feher , J. de Belleroche , F.B. Gibberd Refsum's disease is generally assumed to be caused by mutations in the peroxisomal enzyme phytanoyl-CoA hydroxylase (PAHX). It is chracterised by adolescent onset progressive retinitis pigmentosa, anosmia, ataxia, deafness and sensory neuropathy with preservation of intellect. The sole enzyme abnormality in Refsum's disease is a deficiency in PAHX activity. We have previously shown that 55 per cent of patients with Refsum's disease in the UK do not show linkage to the PAHX locus on chromosme 10p13 in a study of 8 families comprising 48 living individuals, though they are phenotypically identical to patients with Refsum's disease linked to chromosome 10. In the 4 families from the previous study not linked to chromosome 10 comprising 27 members with 9 affected individuals, further linkage analysis was conducted using a panel of 5 markers on chromosome 6p between D6S262 and D6S290. Linkage analysis indicated that a homogeneous cohort was present. A maximal LOD score of 1.72 was obtained in the region D6S314 to D6S308 corresponding to 6p22-24. Candidate genes in this region for Refsum's disease include the peroxin 7 ( Pex 7 ): PTS-2 signal dependent transporter protein , mutations in which have previously been shown to cause a phenotypically distinct syndrome termed rhizomelic chondrodysplasia (RCDP). RCDP is characterised by rhizomelia, proximal bone shortening, disturbed endochondrial bone formation, intellectual retardation and multiple PTS-2 signal-containing peroxisomal enzyme deficiencies.

87. Infantile Refsum Disease refsum disease. nausea Infantile Refsum disease. Infantile Refsum disease bleeding.diarrhea Infantile Refsum disease. Infantile Refsum disease history. http://www.icongrouponline.com/health/Infantile_Refsum_Disease.html

ICON Health Publications Official Health Sourcebooks The Official Parent's Sourcebook on INFANTILE REFSUM DISEASE (Disorder of Cornification 11 (Phytanic Acid Type); DOC 11 (Phytanic Acid Type); Heredopathia Atactica Polyneuritiformis; Hypertrophic Neuropathy of Refsum; Phytanic Acid Storage Disease; Refsum Disease) Revised and Updated for the Internet Age P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Electronic File *E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on Infantile Refsum Disease. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Disorder of Cornification 11 (Phytanic Acid Type); DOC 11 (Phytanic Acid Type); Heredopathia Atactica Polyneuritiformis; Hypertrophic Neuropathy of Refsum; Phytanic Acid Storage Disease; Refsum Disease Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Infantile Refsum Disease: Guidelines

88. Specialty Laboratories ::: We Help Doctors Help Patients Print View. Refsum disease E. Robert Wassman, MD Classical or adult Refsum diseaseis an autosomal recessive disorder caused by defective aoxidation of http://www.specialtylabs.com/books/display.asp?id=931

89. Klawans, Harold Defending The Cavewoman And Other Tales Of CreutzfeldtJakob disease. Two particularly memorable chapters concernHuntington s chorea and Refsum s disease. The chapter, Anticipation http://endeavor.med.nyu.edu/lit-med/lit-med-db/webdocs/webdescrips/klawans1640-d

About the Database Editorial Board Annotators What's New ... MedHum Home 53rd Edition-April 2004 Art Annotations Artists Meet the Artist Viewing Room ... Art in Literature Literature Annotations Authors Meet the Author Listening Room ... Reading Room Performing Arts Film/Video Annotations Screening Room Theater Editors' Choices Choices Editor's Biosketch Indexes Book Order Form Search Options Word/Phrase (All) Word/Phrase (Lit) Keyword Annotator ... Special Author Asterisks indicate multimedia Comments/Inquiries Literature Annotations Klawans, Harold Defending the Cavewoman and Other Tales of Evolutionary Neurology Genre Collection (Case Studies) (256 pp.) Keywords Aging Anatomy Art of Medicine Body Self-Image ... Surgery Summary This posthumously published collection of essays by Dr. Klawans, an eminent neurologist and writer, explores the interactions between patient, family and neurologist and the implications of specific neurologic diseases. Klawans's special interest in neurology is movement disorders, such as Huntington's chorea and Parkinson's disease, but his outside interests range from evolutionary biology to classical music. His essays, therefore, focus on single patients or families, but the author weaves thoughts about his other interests into each "case." The book is divided into two sections, "The Ascent of Cognitive Function" and "The Brain's Soft Spots: Programmed Cell Death, Prions, and Pain." In a brief preface, Klawans declares that this book is "more than just a set of clinical tales about interesting and at times downright peculiar patients" from his 35 years of practice, but rather it "humbly grapples with the 'whys' of our brain, not the 'hows.'" (pp. 9-10) In the preface, as well as in one essay, Klawans acknowledges the work and impact of fellow neurologist-writer

90. HONselect - Peroxisomal Disorders English Peroxisomal Disorders, Adrenoleukodystrophy, Neonatal - HyperpipecolicAcidemia - Infantile Refsum disease - Refsum disease, Infantile - Infantile http://www.hon.ch/HONselect/RareDiseases/C10.228.140.163.474.649.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Peroxisomal Disorders - Adrenoleukodystrophy, Neonatal - Hyperpipecolic Acidemia - Infantile Refsum Disease - Refsum Disease, Infantile - Infantile Refsum's Disease - Peroxisomal Dysfunction, General Français: TROUBLES PEROXYSOMAUX - ACIDEMIE HYPERPIPECOLIQUE - ADRENOLEUCODYSTROPHIE NEONATALE - MALADIE REFSUM INFANTILE Deutsch: Peroxisomale Störungen - Adrenoleukodystrophie, neonatale - Hyperpipecolische Azidämie - Infantile Refsum-Krankheit - Refsum-Krankheit, infantile Español: TRASTORNO PEROXISOMAL - ADRENOLEUCODISTROFIA NEONATAL - ACIDEMIA HIPERPIPECOLICA - ENFERMEDAD DE REFSUM INFANTIL Português: TRANSTORNOS PEROXISSOMICOS - ADRENOLEUCODISTROFIA NEONATAL - ACIDEMIA HIPERPIPECOLICA - DOENCA DE REFSUM INFANTIL HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français Yes Deutsch No Español Yes Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.228.140.163.474.649.html Last modified: Wed Apr 28 2004

91. PHYH CM001290, 29, tCCCTCC, Pro-Ser, Refsum disease, 1. CM001291, 173, cCCC-TCC,Pro-Ser, Refsum disease, 1. CM001292, 176, cCAG-AAG, Gln-Lys, Refsum disease,1. http://archive.uwcm.ac.uk/uwcm/mg/ns/1/9263423.html

PHYH Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference tCCC-TCC Pro-Ser Refsum disease cCCC-TCC Pro-Ser Refsum disease cCAG-AAG Gln-Lys Refsum disease GAC-GGC Asp-Gly Refsum disease cTGG-CGG Trp-Arg Refsum disease gGAG-CAG Glu-Gln Refsum disease cATC-TTC Ile-Phe Refsum disease cGGC-AGC Gly-Ser Refsum disease cCAC-TAC His-Tyr Refsum disease CGG-CAG Arg-Gln Refsum disease TTC-TCC Phe-Ser Refsum disease gAAT-CAT Asn-His Refsum disease CGG-CAG Arg-Gln Refsum disease cCGG-TGG Arg-Trp Refsum disease References 1 - Jansen (2000) Hum Mol Genet 2 - Jansen (1999) Adv Exp Med Biol ... Nat Genet HGMD

92. Disabilityexchange.org - Taxonomy Infantile Refsum disease. Synonym(s) Infantile Phytanic Acid Storage disease,Refsum diseaseInfantile What is Infantile Refsum disease? http://www.disabilityexchange.org/taxonomy/index.php?fid=3&path=3_282

93. Disabilityexchange.org - Taxonomy Refsum disease. Synonym(s) Heredopathia Atactica Polyneuritiformis,Phytanic Acid Storage disease What is Refsum disease? Refsum http://www.disabilityexchange.org/taxonomy/index.php?fid=3&path=3_419

94. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Acids in Patients With Peroxisomal Disorders Conditions Infantile Refsum s disease;Zellweger Syndrome; Bifunctional Enzyme Deficiency; Adrenoleukodystrophy. http://www.clinicaltrials.gov/search/term=Infantile Refsum Disease

Home Search Browse Resources ... About Search results for Infantile Refsum Disease [ALL-FIELDS] are shown below. Include trials that are no longer recruiting patients. 1 study was found. Not yet recruiting Study of Bile Acids in Patients With Peroxisomal Disorders Conditions: Infantile Refsum's Disease; Zellweger Syndrome; Bifunctional Enzyme Deficiency; Adrenoleukodystrophy U.S. National Library of Medicine Contact NLM Customer Service National Institutes of Health Privacy ... Freedom of Information Act

95. RetNet: Disease Table PEX7, PTS2R, RCDP1; 215100, 266500, 601757, 6q23.3, recessive Refsum disease,adult form; protein peroxisome biogenesis factor 7 LocusLink Refsum disease, http://www.sph.uth.tmc.edu/Retnet/disease.htm

Cloned and/or Mapped Genes Causing Retinal Diseases Home Page Summaries Symbols References ... Comments Listed by chromosome: X mitochondrion Total entries = 162. If you know the symbol but not the chromosome, please use the Symbols list to find a gene. (Last updated May 12, 2004) Chromosome 1 Symbols; OMIM Numbers Location Diseases; Protein Mapping Method; Comments References recessive Leber congenital amaurosis linkage mapping; single consanguineous Pakistani family Keen 03 recessive Leber congenital amaurosis; recessive RP; protein: retinal pigment epithelium-specific 65 kD protein [LocusLink] cloned gene; accounts for 2% of recessive RP and 7 to 16% of LCA; same as Swedish Briard-Beagle dog; protein is necessary for production of 11- cis -vitamin A; 9- cis -retinal restores visual function in mouse model; sucessful gene therapy in dog; in same pathway as LRAT Acland 01 Aguirre 98 Gu 97 ... Veske 99 , ABCR, RP19, STGD1 recessive Stargardt disease, juvenile and late onset; recessive MD; recessive RP; recessive fundus flavimaculatus; recessive cone-rod dystrophy; protein: ATP-binding cassette transporter - retinal [LocusLink] linkage mapping, cloned gene; may be involved in age-related macular degeneration; same as ROS1.2 and rim protein, expressed in rod outer segment and foveal cones; ABCA4 mutation may increase severity of

96. Refsum Refsum disease Determination of phytanic acid by thinlayer chromatography, Refsumdisease Determination of phytanic acid by gas chromatography. http://www.akh-wien.ac.at/kin/Englische Version/diagnostik/Neurochemie/eRefsum.h

Refsum Disease Determination of phytanic acid by thin-layer chromatography Mailing: Only from Monday till Wednesday by EMS Contact person for medical concerns phone: (+43) 1 40400 - 5517, 5502 Contact person for technical concerns Regine Sundt phone: (+43) 1 40400 - 5517 The determination of phytanic acid by thin-layer chromatography is used for diagnosis of Refsum disease and, in patients diagnosed for Refsum disease, for continuous control of therapeutical success of phytanic acid-depleted diet. Method: Saponification, esterification, thin-layer chromatography, Material needed: 10 ml EDTA-blood Time of acceptance: Monday till Friday 8h00 - 14h00 Notice in advance: necessary Refsum Disease Determination of phytanic acid by gas chromatography Mailing: Only from Monday till Wednesday by EMS Contact person for medical concerns phone: (+43) 1 40400 - 5517, 5502 Contact person for technical concerns Regine Sundt phone: (+43) 1 40400 - 5517 The determination of phytanic acid by gas chromatography is used for diagnosis of Refsum disease in children. Method: Saponification, esterification, thin-layer chromatography, gas chromatography

97. Department Of Pharmacy And Pharmacology - Dr. Matthew D. Lloyd in the aoxidation pathway causes phytanic acid accumulation leading to several severeand incurable genetic diseases, including Adult Refsum s disease (ARD). http://www.bath.ac.uk/pharmacy/staff/lloyd.shtml

Text only University Advanced Search News ... Contact Us Search: Department of Pharmacy and Pharmacology Home Undergraduates Postgraduates Research Staff Events Staff Dr. Matthew D. Lloyd (Lecturer in Molecular Enzymology) Telephone: (01225) 386786/ Fax (01225) 386114 Email: M.D.Lloyd@bath.ac.uk Department of Pharmacy and Pharmacology University of Bath (5 West - 2.13) Claverton Down Bath ENGLAND Vita: Lecturer in Molecular Enzymology (University of Bath) Senior Post-Doctoral Research Associate (University of Oxford) Post-Doctoral Research Associate (Brown University) D.Phil. 'Biosynthesis of Clavulanic acid' (University of Oxford) Bsc (hons) Biological Chemistry (University of Leicester) Research Interests: Research in my group is aimed at understanding the in vivo role of proteins in metabolism in normal and disease states. The work utilizes a wide range of different techniques, including molecular biology, expression and purification of recombinant proteins, activity assays, chemical and chemical co-substrate rescue, steady-state kinetic analysis, isolation of products and spectroscopic characterization, and protein-protein interactions. Phytanic acid metabolism Recent Publications: N. J. Kershaw, M. Mukherji, C. H. MacKinnon, T. W. D. Claridge, B. Odell, A. S. Wierzbicki, M. D. Lloyd, C. J. Schofield "Studies on phytanoyl-CoA 2-hydroxylase (synthesis of phytanoyl-CoA)"

98. Studies On The Metabolic Error In Refsum's Disease* Investigation J Clin Invest. 1967 March; 46 (3) 313 322 Studies on theMetabolic Error in Refsum s disease *. Daniel Steinberg, Charles E http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=297052

99. Our Children Ian is 5 years old and has Infantile Refsum s disease. He has loss. Rebeccais 5 1/2 years old and has Infantile Refsum s disease. She http://www.geocities.com/Heartland/Meadows/5939/ourchildren.html

OUR CHILDREN I feel we can all learn by sharing our experiences with raising deafblind children. I would like to include the stories of your deafblind children on this web page. If you are interested in sharing your child's story with us you can e-mail me at: shelmack@bc.sympatico.ca You can include such information as: Child's age, age of diagnosis, degree of deafblindness, additional disabilities or medical issues, how you communicate, school situation, intervention, how you cope etc. You can read the children's stories by clicking on their name. CJ is 11 years old and totally blind with a severe hearing loss. Ian is 5 years old and has Infantile Refsum's Disease. He has visual impairment and a severe hearing loss. Rebecca is 5 1/2 years old and has Infantile Refsum's Disease. She is visually impaired with a moderate hearing loss. Amelia is 10 years old and was born with congenital rubella syndrome leaving her severely deaf and visually impaired. On this page is also a story of an adult Ian, also born with congenital rubella syndrome and how they were both helped by Sense, The National Deafblind and Rubella Association. Andrea is 11 years old and is moderately to severely hearing impaired and visually impaired.

100. Neuroguide.com - Human Neurological Diseases Web sites providing information on human neurological diseases can be accessedvia this section. Refsum disease. Refsum disease Information (NINDS). http://www.neuroguide.com/cgi-bin/pdistoc.pl?file=RefsumDisease

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