61. Lena Starck: Doktorsavhandling Från Karolinska Institutet Starck, Lena SmithLemli-opitz syndrome - a disorder of cholesterol synthesisDiagnosis, treatment and pathogenetic aspects Friday, September 27, 2002. http://diss.kib.ki.se/2002/91-7349-273-6/

sök sök personal översikt OM KAROLINSKA INSTITUTET ... Info Doktorsavhandling vid Karolinska Institutet Starck, Lena Smith-Lemli-Opitz syndrome - a disorder of cholesterol synthesis : Diagnosis, treatment and pathogenetic aspects Fredagen den 27 september 2002, kl. 9.00. Föreläsningssal Ihre (fd. sal 4), U-flygeln, plan 0, Södersjukhuset. ISBN: 91-7349-273-6 Diss: 02:507 Abstract: In 1993 it was first suggested that the Smith-Lemli-Opitz syndrome (SLOS), described almost 30 years earlier as a malformation syndrome, is caused by defective synthesis of cholesterol. Hypocholesterolaemia and accumulation of the immediate precursor 7dehydrocholesterol was consistent with deficient activity of the enzyme in the last step of the synthesis, 7-dehydrocholesterol-7-reductase. The discovery raised hopes of developing diagnostic methods, finding strategies for treatment and increasing our understanding of the pathogenetic mechanisms. The aims of the present study were to identify children with SLOS in Sweden, to initiate and evaluate different treatments and to study the connection between the clinical presentation, biochemical parameters and the basal defect.

62. NORD - National Organization For Rare Disorders, Inc. Subdivisions BBB Syndrome (Opitz); G Syndrome. General Discussion Opitz G/BBBSyndrome or opitz syndrome is a genetic disorder that may be evident at birth. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Opitz G/BBB S

63. NORD - National Organization For Rare Disorders, Inc. Smith Lemli opitz syndrome. View Cart/Checkout. Copyright 1986, 1988, 1990,1994, 1995, 1996, 1997, 1998 Synonyms of Smith Lemli opitz syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Smith Lemli O

64. Smith – Lemli – Opitz Syndrome one click For Medical Professionals only. Smith – lemli –opitz syndrome,, Print this article, (David W. Smith, 20th century http://www.amershamhealth.com/medcyclopaedia/Volume VII/SMITH LEMLI OPITZ SYND

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Smith – lemli – opitz syndrome, (David W. Smith, 20th century, American paediatrician; Luc Lemli, 20th century, American paediatrician; John M. Opitz, 20th century, American paediatrician), syndrome with autosomal recessive inheritance in which children present with multiple congenital abnormalities in association with low birth weight and mental retardation. There is failure to thrive and progressive spasticity in childhood. Urogenital abnormalities with ambiguous genitalia may occur. Two forms are described: type I, which presents in childhood and type II, in which there may be intrauterine growth retardation. Radiological manifestations are microcephaly, which may be associated with multiple other brain malformations, soft tissue syndactyly of the toes and nonspecific urinary tract abnormalities.

65. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Conditions and Diseases Genetic Disorders opitz syndrome . NORD opitz syndromeA look at the alternate names, a general discussion and resources. http://www.1uphealth.com/links/genetic-disorders-opitz-syndrome.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Opitz Syndrome Description See Related Categories Health: Conditions and Diseases: Nutrition and Metabolism Disorders Health: Conditions and Diseases: Rare Disorders Sites Canadian Opitz Family Network A description of Opitz G/BBB Syndrome. National Library of Medicine: OS Opitz syndrome, the synonyms, a summary and a list of major features. NORD - Opitz Syndrome A look at the alternate names, a general discussion and resources. Opitz G/BBB Family Network Support network for family members whose children have Opitz-G/BBB syndrome. Zach's Opitz Syndrome Site Offers information, a family's experience with this syndrome and links to the Opitz Family Network. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement.

66. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders 1UpHealth Health Directory Conditions and Diseases Genetic Disorders SmithLemli opitz syndrome (3). Smith Lemli opitz syndrome Advocacy and exchange. http://www.1uphealth.com/links/genetic-disorders-smith-lemli-opitz-syndrome.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Smith Lemli Opitz Syndrome Description See Related Categories Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats Health: Conditions and Diseases: Rare Disorders Sites Emergency Medicine An extensive article about Smith-Lemli-Opitz syndrome, a multiple congenital anomalies/mental retardation syndrome caused by a defect in cholesterol synthesis. NORD - Smith Lemli Opitz Syndrome Offers a brief description, the synonyms and further resources. Smith Lemli Opitz Syndrome Advocacy and exchange. Includes a detailed description, diagnosis, the natural history, biochemistry, genetics, treatment and contact details. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement.

67. Smith-Lemli-Opitz Syndrome - General Practice Notebook medical information from General Practice Notebook. SmithLemli-Opitzsyndrome. Described by Smith in 1964, this syndrome includes http://www.gpnotebook.co.uk/cache/1476788271.htm

Smith-Lemli-Opitz syndrome Described by Smith in 1964, this syndrome includes microcephaly, growth and mental retardation, unusual facial appearance, syndactyly of toes 2 and 3, and genital abnormalities. Multiple major structural abnormalities are the exception in SLOS patients surviving infancy. Facial anomalies include ptosis, micrognathia and anteverted nares. Genital abnormalities occur in males, and include hypospadias, cleft scrotum and cryptorchidism. Developmental defects are generally associated with severe mental retardation, although borderline normal intelligence has been reported. A more severe phenotype, SLOS type II, was recognised in 1987. Infants have multiple major structural abnormalities and male pseudohermaphroditism; most die in the neonatal period. Both phenotypes seem to be inherited as an autosomal recessive trait, and are now thought to reflect different mutations within the same (as yet unidentified) gene. It is more commonly diagnosed in males because genital ambiguity is more obvious. Cholesterol levels are very low.

68. Smith-Lemli-Opitz Syndrome: A Treatable Inherited Error Of Metabolism Causing Me Smith­Lemli­opitz syndrome a treatable inherited error of metabolism causingmental retardation. Smith­Lemli­opitz syndrome in a 23year-old man. http://collection.nlc-bnc.ca/100/201/300/cdn_medical_association/cmaj/vol-161/is

CMAJ Contents Abstract Introduction Clinical features Genetics and epidemiology ... References Abstract Contents Smith SLOS is caused by a defect in cholesterol synthesis and presents with characteristic dysmorphic facial features, mental retardation, multiple congenital anomalies and failure to thrive. It was first described in 1964 and, until recently, was of limited clinical interest to primary care physicians because no diagnostic test or treatment was available. In 1994 the discovery of the underlying defect that affects cholesterol synthesis led to the development of a biochemical diagnostic test for SLOS. Despite the exciting research developments, we believe that this relatively common genetic disease remains unknown to primary care physicians. Because dietary therapy with cholesterol supplementation has been shown to have a considerable positive impact on the clinical course of this disease, increased physician awareness is needed to ensure that patients and their families receive appropriate diagnosis, treatment and genetic counselling. Contents Clinical features SLOS is characterized by dysmorphic facial features, microcephaly, growth retardation, multiple internal anomalies, cutaneous syndactyly of the second and third toes, and genital malformations.

69. Genetic Disorders Leukodystrophy. Disability Resources.ORG Leukodystrophy. Smith Lemliopitz syndrome. Gene Reviews SmithLemli-opitz syndrome. Smith http://ccms.wcpss.net/media/gdisorders.htm

Links for Mr. Norman's PBL on Genetic Disorders Cystic Fibrosis Cystic Fibrosis Foundation Hardin MD: Cystic Fibrosis HHMI's Blazing a Genetic Trail: Research on Mutant Genes and Hereditary Diseases: a report from the Howard Hughes Medical Institute Cystic Fibrosis. ... Cystic Fibrosis Mutation Data Base with information collected by the Cystic Fibrosis Genetic Analysis Consortium. Cystic Fibrosis Research, Inc. Leukodystrophy NINDS Leukodystrophy Information Page Medline Plus Medical Encyclopedia: Metachromatic leukodystrophy Medline Plus Medical Encyclopedia: Adrenoleukodystrophy United Leukodystrophy Foundation ... Leukodystrophy (from Family Village: a global community of disability-related resources). Project Links.Org: Leukodystrophy Kinds of Leukodystrophy (Australian Leukodystrophy Support) National Organization for Rare Disorders University of Pittsburgh Department of Human Genetics: Metachromatic Leukodystrophy Disability Resources.ORG: Leukodystrophy Smith Lemli Opitz Syndrome Smith Lemli Opitz Syndrome Advocacy and Exchange eMedicine: Smith Lemli Optiz Syndrome article by Dr. Robert D. Steiner.

70. Health Library - Opitz Syndrome Search. opitz syndrome. Founded 1994.Support, encouragement, education, and sharingof successes and ideas for families affected by OpitzG/BBB Syndrome. http://yourhealth.stlukesonline.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=

71. Searchalot Directory For Opitz Syndrome Zach's opitz syndrome Site Offers information, a family's experiencewith this syndrome and links to the Opitz Family Network. http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Opit

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Genetic Disorders : Opitz Syndrome Related Web Sites Canadian Opitz Family Network - A description of Opitz G/BBB Syndrome. Opitz G/BBB Family Network - Support network for family members whose children have Opitz-G/BBB syndrome. Zach's Opitz Syndrome Site - Offers information, a family's experience with this syndrome and links to the Opitz Family Network. NORD - Opitz Syndrome - A look at the alternate names, a general discussion and resources. National Library of Medicine: OS - Opitz syndrome, the synonyms, a summary and a list of major features. Related Categories Health: Conditions and Diseases: Nutrition and Metabolism Disorders Health: Conditions and Diseases: Rare Disorders All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft

72. Searchalot Directory For Smith Lemli Opitz Syndrome Top Health Conditions and Diseases Genetic Disorders Smith Lemli opitz syndrome(3). Related Web Sites. Smith Lemli opitz syndrome Advocacy and exchange. http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Smit

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Genetic Disorders : Smith Lemli Opitz Syndrome Related Web Sites Smith Lemli Opitz Syndrome - Advocacy and exchange. Includes a detailed description, diagnosis, the natural history, biochemistry, genetics, treatment and contact details. NORD - Smith Lemli Opitz Syndrome - Offers a brief description, the synonyms and further resources. Emergency Medicine - An extensive article about Smith-Lemli-Opitz syndrome, a multiple congenital anomalies/mental retardation syndrome caused by a defect in cholesterol synthesis. Related Categories Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats Health: Conditions and Diseases: Rare Disorders All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft

73. NEJM -- Defective Cholesterol Biosynthesis Associated With The Smith-Lemli-Opitz Original Article from The New England Journal of Medicine Defective CholesterolBiosynthesis Associated with the SmithLemli-opitz syndrome. http://dx.doi.org/10.1056/NEJM199401133300205

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 330:107-113 January 13, 1994 Number 2 Next Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome G Stephen Tint, Mira Irons, Ellen Roy Elias, Ashok K. Batta, Roger Frieden, Thomas S. Chen, and Gerald Salen Table of Contents Full Text of this article Related Letters to the Editor Find Similar Articles in the Journal ... Related Articles in Medline Articles in Medline by Author: Tint, G S. Salen, G. Medline Citation ABSTRACT Background The Smith-Lemli-Opitz syndrome (frequency, 1:20,000 to 1:40,000) is defined by a constellation of severe birth defects affecting most organ systems. Abnormalities frequently include profound mental retardation, severe failure to thrive, and a high infant-mortality rate. The syndrome has heretofore been diagnosed only from its clinical presentation. Methods Using capillary-column gas chromatography-mass spectrometry, we measured the sterol composition of plasma, erythrocytes, lens, cultured fibroblasts, and feces from five children with the syndrome (three girls and two boys).

74. Children's Health At Doernbecher - For Health Professionals RG, Steiner, RD. Eye findings in six children and a spontaneouslyaborted fetus with RSH/SmithLemli-opitz syndrome. Am J Med Gen http://www.ohsuhealth.com/dch/peds/rsch_metabolism.asp

Department of Pediatrics Physicians' Education Dept. of Pediatrics Residency Program Fellowship Programs Medical Student Clerkships Research Adolescent Health ... Infectious Diseases Metabolism Molecular Cardiology Neonatology Nephrology Neurology ... Referring Your Patients Doernbecher Pediatric Metabolism Research Investigator Robert Steiner, MD FAX 503-494-2781 707 SW Gaines Road, CDRC-P Portland, OR 97201 Lab contact: Louise Merkens, 503-494-4593 Research Interest The Steiner lab studies the molecular and biochemical basis of cholesterol biosynthesis disorders and novel approaches to their treatment. Our lab focuses on the most common such syndrome, Smith Lemli Opitz (SLOS) . SLOS is a genetic syndrome associated with mental retardation and birth defects. It is caused by a defect in the final step in cholesterol synthesis. Affected individuals have low cholesterol levels and elevated levels of cholesterol precursors. SLOS is a natural model of cholesterol synthetic defects, and understanding this condition at the biochemical and molecular level will advance our knowledge of cholesterol metabolism in general. We are also pursuing basic in vitro studies. With our collaborators at the NIH, we (and two other groups simultaneously) identified mutations in the 7-dehydrocholesterol )-7 reductase gene as the cause of SLOS. We are identifying mutations in the gene in patients. These studies will allow determination of genotype/phenotype correlations in SLOS.

75. Opitz Trigonocephaly Syndrome Family Network Guest Book 11/10/00 203047 My Emailzzzgraal@tin.it Country italy State italy City cagliari,Comments I have baby Emanuele,Who was diagnosed with opitz syndrome. http://www.geocities.com/HotSprings/Villa/1407/geobook.html

Welcome Opitz Trigonocephaly Syndrome Family Network alessio My Email: zzzgraal@tin.it Country: italy State: italy City: cagliari Comments: I have baby: Emanuele,Who was diagnosed with Opitz Syndrome. Diagnosis based on features and conditions. I am very new on this diagnosed Opitz syndrome. I do need soem research or information on it please! Pleas email me. Katsarou Litsa My Email: agkikas@uth.gr Country: GREECE City: VOLOS Comments: Hello. My friends boy is 6 yo and has Opitz syndrome. I would like to know about the existence of any Medical Care Center for these children in Europe or in any country near Greece. Thank you in advance. Sarah My Email: schyleen69@hotmail.com Country: United States State: Nebraska City: Kearney Comments: I have a friend that doesn't understand a lot about the syndrome and I would appreciate any help. I haven't been able to find much. Thank you and God bless. Marcy Smith Country: United States State: OHIO City: Sidney Comments: Hi I have a nine tear old cousin who has Opits. He has had many health problems but is doing great now. I am a teacher's aide in a handicapped classroom at a public high school and I am very interested in learning about diabilities and disorders. Thank Yo ! Cherilee Burton My Email: cheri.burton@tenethealth.com

76. Sotos Syndrome.... 1995 Translate this page Titre/Title, Smith-Lemli-opitz syndrome. Editeur/Editor, MacKeithPress. Lieu/Place, London, UK. Date, 1995. Collation/Series, p.183-85. http://www.cidg.com/~marienf/k/i/n/m003109.htm

# Mono.: S0002809 Cote/Call Number Auteur/Author Udwin, Orlee Dennis, Jennifer Titre/Title Sotos Syndrome. Editeur/Editor MacKeith Press Lieu/Place London, U.K. Date Collation/Series p.186-88 Descripteurs/Descriptors Sotos Syndrome Phenotype comportemental Coll.: Clinics in Developmental Medicine, No 138 Demande par courrier Type de demande: < Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

77. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli opitz syndrome. Diagnostic criteria and definition. Identification and characterizationof proteins that interact with midin, the opitz syndrome gene product. http://orphanet.infobiogen.fr/data/patho/GB/uk-FG.html

FG syndrome Author: Prof John M. Opitz Scientific editor: Prof Didier Lacombe Creation date: September 2001 Disease name and synonyms Excluded disorders Diagnostic criteria and definition Nosology ... References Disease name and synonyms FG syndrome Syndrome FGS1 Megalocornea-Mental Retardation syndrome Excluded disorders For the moment the Opitz (G/BBB) syndromes are excluded. Opitz syndrome. Diagnostic criteria and definition FG syndrome may affect boys and girls with a syndrome of relative shortness of stature with disproportionately large head, a characteristic combination of minor anomalies including high, prominent forehead, cowlicks and abnormalities of hair whorls, apparent hypertelorism, relatively thin vermilion of the upper lip with prominence of the lower lip, hypotonic mouth breathing facial changes, minor ear anomalies, the appearance of relatively large corneae, broad thumbs and halluces, short perineal body, deep pilonidal dimple and diastasis recti. Malformations include (partial) agenesis of corpus callosum, Chiari I malformation, vertebral malformation, intestinal/anal atresia, limb malformations (poly-, oligo-, syndactyly), genitourinary abnormalities, cryptorchidism, herniae and congenital heart defects. Nosology Primarily with the "Opitz" (G/BBB) syndromes which show extensive overlap with FG except that laryngeal cleft, pulmonary agenesis or hypoplasia and tetralogy of Fallot have been seen only in the G/BBB syndrome so far.

78. Entrez-PubMed Abstract, FXY2/MID2, a gene related to the Xlinked opitz syndrome gene FXY/MID1,maps to Xq22 and encodes a FNIII domain-containing protein that associates http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Link&db=PubMed&dbFrom=PubMed&f

79. Smith-Lemli-Opitz Syndroom (7-dehydroch Bartlett,K., Clayton,P., Eaton,S., Mills,L., Donnai,D., Winter,RM Burn,J. (1998)SmithLemli-opitz syndrome a variable clinical and biochemical phenotype. http://www.fdg.unimaas.nl/lod/7smith.htm

Smith-Lemli-Opitz syndroom (7-dehydrocholesterol reductase deficiëntie) " hedgehog"-eiwitten. Deze embryonale signaaleiwitten verzorgen op hun beurt weer de regulatie van genen die betrokken zijn bij de morfogenese van het embryo (bijv. links-rechts oriëntatie van lichaamsstructuren en ontwikkeling armen en benen) [4]. Postnatale biochemische diagnostiek voor het SLO-syndroom bestaat uit het detecteren van verhoogde 7-dehydrocholesterol concentraties in bloed, het bepalen van de de novo Hans R. Waterham Ronald J.A. Wanders Laboratorium voor Genetische Metabole Ziekten Academisch Medisch Centrum Amsterdam Referenties N. Engl. J. Med D 7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc. Natl. Acad. Sci. USA D 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am. J. Hum. Genet Figuur : Het SLO-syndroom is het gevolg van een deficiëntie van het enzym 7-dehydrocholesterol reductase (7-DHCR) veroorzaakt door mutaties in het 7-DHCR gen. Hierdoor vindt de reductie van de onverzadigde verbinding tussen de koolstofatomen op positie 7 en 8 van het 7-dehydrocholesterol molecuul (C7 en C8) niet meer plaats zodat cholesterol, normaliter het product van deze enzymreactie, niet meer aangemaakt kan worden en 7-dehydrocholesterol stapelt. Terug naar hoofdmenu Terug naar menu LOD-nieuwsbrief nr. 7, juli 1999

80. Clinical Study: 98-CH-0081, Clinical And Basic Investigations Into Smith-Lemli-O Title Clinical and Basic Investigations into SmithLemli-opitz syndrome Number98-CH-0081 Summary Smith-Lemli-opitz syndrome (SLOS) is a genetic disorder http://clinicalstudies.info.nih.gov/detail/A_1998-CH-0081.html

Protocol Number: 98-CH-0081 Title: Clinical and Basic Investigations into Smith-Lemli-Opitz Syndrome Number: 98-CH-0081 Summary: Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder (autosomal recessive) caused by an abnormality in the production of cholesterol. The disorder can occur in both a "mild" or "severe" form. SLOS is associated with multiple birth defects and mental retardation. Some of the birth defects include; abnormal facial features, poor muscle tone, poor growth, shortened life span, and abnormalities of the heart, lungs, brain, gastrointestinal tract, limbs, genitalia, and kidneys. There is no known cure for SLOS but recently patients have been treated with increased amounts of cholesterol in their diet. The cholesterol in a persons diet is unable to correct the abnormalities in the patient's organs, but researchers hope it will improve growth failure and mental retardation. This study was developed to answer questions about the causes and complications of SLOS, as well as the effectiveness of cholesterol treatment. The study will enroll patients diagnosed with SLOS, and their mothers. The objectives of the study will be to address the following questions: 1. What is the prognosis / natural history of the demyelination in the nervous system of patients with SLOS?

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