41. Child Neurology and Isaac (2/8/98) 544 PM; HOMESCHOOLING (2/7/98) 1213 PM; HOMESCHOOLING(2/7/98) 1212 PM; Infantile refsums disease (2/7/98) 124 AM; PVL? http://neuro-www.mgh.harvard.edu/forum/childneurologyarchive01.html

Child Neurology Menu - Archive 10/10/97-11/10/98 This Web Forum is not moderated in any sense. Anyone on the Internet can post articles or reply to previously posted articles, and they may do so anonymously. Therefore, the opinions and statements made in all articles and replies do not represent the official opinions of MGH and MGH Neurology. Neither is MGH or MGH Neurology responsible for the content of any articles or replies. No messages are screened for content. This is a webforum to discuss and comment on Child Neurology. Current Archive 10/10/97-11/10/98 Return to Current Child Neurology Menu. gillespie syndrome (11/10/98) 3:59 AM craniosynostosis (11/9/98) 8:39 PM first seizure in 3 year old (11/6/98) 2:43 AM ... Continuous Spike Waves (10/10/97) 11:22 PM IMPORTANT: If this page seems to be missing recently added documents, click the "Reload Page" button on your Web Browser to update the menu. Return to the main Neurology WebForum Page. These forums are maintained by the Department of Neurology at Massachusetts General Hospital John Lester - Webspinner

42. Vindex, De Vindplaats Van Het Nederlandse Web symptoms, treatment and research being done. http//www.ninds.nih.gov/health_and_medical/disorders/refsum_doc.htm.refsums disease. http://www.vindex.nl/dir/Health/Conditions_and_Diseases/Nutrition_and_Metabolism

hulp contact persoonlijke instellingen voeg uw site toe ... Opties: Samenvatting 1 url per domein Sites in nieuw venster Staat uw webpagina nog niet in Vindex? Meld deze dan nu aan! Url: Emailadres: Zoek in de webgids: Terug naar het overzicht Huidige rubriek Health Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats Refsum's Verwante Rubrieken Health:Conditions and Diseases:Neurological Disorders:Muscle Diseases Health:Conditions and Diseases:Genetic Disorders Health:Conditions and Diseases:Rare Disorders Links Refsum Disease Gevonden in rubriek: Health Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats ... Refsum's Omschrijving: The clinical and biochemical presentation of this disease, the causes and treatment are discussed. http://www.peroxisome.org/Scientist/Biochemistry/disorders/refsumtext.html Refsum's Diet Gevonden in rubriek: Health Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats ... Refsum's Omschrijving: Very in depth discussion about the foods and diet of some one whom has refsum's disease. http://www.alphalink.com.au/~dijon/index3.htm

43. Health Conditions And Diseases Nutrition And Metabolism Disorders Cholesterol An refsums disease Two articles about this disease, clinical description,inheritance, treatment and related diseases and syndromes. http://www.yellowpages.pl/ca/434084/Health/Conditions_and_Diseases/Nutrition_and

>English Version Polskie Firmy: Firmy wg SIC Szukaj firmy Szukaj w Internecie: Polska ¦wiat Katalog Stron Biznes Serwisy YellowPages: Rejestracja DOMEN Strony WWW DNS ZOOM ... Sklep Partner idealo.de NETSPRINT Reporter.pl Portofolio DVD Search TOP CHARTS Webkatalog Multi szukanie - mainSeek Polska - Netsprint ¦wiatowy Katalog Stron Katalog Firm Teleadreson Szukaj domeny TOP Health Refsum's Refsum Disease - The clinical and biochemical presentation of this disease, the causes and treatment are discussed. Refsum Disease - Information sheet on this disease as to what it is, the symptoms, treatment and research being done. Refsum Disease - A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed. Refsum's Diet - Very in depth discussion about the foods and diet of some one whom has refsum's disease. Refsums Disease - Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor P³atna reklama REJESTRACJA DOMEN KATALOG STRON PROFESJONALNY DNS SKLEP ... e-mail

44. Dir For Snn.gr refsums disease Open this link in a new window Two articles about this disease,clinical description, inheritance, treatment and related diseases and http://dir.snn.gr/Health/Conditions_and_Diseases/Nutrition_and_Metabolism_Disord

Free Stuff: Home Health Refsum's Also see: Health: Conditions and Diseases: Neurological Disorders: Muscle Diseases Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders Refsums Disease - Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes. Refsum's Diet - Very in depth discussion about the foods and diet of some one whom has refsum's disease. Refsum Disease - The clinical and biochemical presentation of this disease, the causes and treatment are discussed. Refsum Disease - Information sheet on this disease as to what it is, the symptoms, treatment and research being done. Refsum Disease - A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed. Search for Refsum's on: All the Web AltaVista Deja Google ... Yahoo Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Application services provided by SimpleApps The SimpleApps Mail servers are located in California and are protected against SPAM and UCE by California law.

45. Untitled Document process of approaching companies and organisations seeking sponsorship for BrittanyParrott, a seven year old girl who suffers from Infantile refsums disease. http://www.thekingsschool.co.za/newsletters/september/newsletter07_8.htm

Sponsership Request Brittany Brittany is still on nappies and requires a large amount of these. her medical costs are high, as she needs to go onto an antibiotic regularly, especially for chest infections, tonsillitis, bronchitis etc. Brittany requires surgery on her feet as the tendons are shortening since she cannot walk. This will result in long term damage and problems should she end up in a wheelchair. Brittany sees a doctor in Barcelona, Spain once a year and so flights, accommodation etc. have to be paid for once a year. Any assistance whatsoever (gift hampers, services offered, cash donations, car hire, airline tickets, medicine, accommodation (in Spain), or consumables such as foodstuffs, nappies etc.) will be appreciated. Any additional information on Brittany or her needs can be obtained from her mother Hazel (a parent in our school) on 072-1451019, or email corpcafe@wol.co.za Support the shops that support our school. Every rand you spend raises funds for our school. Here are a few comments from those who are noted as consistently using and supporting our King's School with the use of their school Smart Card. This is to encourage all of us to make use of this wonderful easy way of raising funds for our school.

46. Listings Of The World Health Conditions And Diseases Rare Includes a rare disease, organization and orphan Health/Conditions_and_diseases/Nutrition_and_Metabolism_Disorders/Cholesterol_and_Other_Fats/refsums(6) Health http://listingsworld.com/Health/Conditions_and_Diseases/Rare_Disorders/

47. UNITED LEUKODYSTROPHY FOUNDATION _VID234, Research Update on Krabbes disease D.Wenger 1999, 60 min, $10.00, _VID219,Research Update on Neonatal ALD; Zellweger; CTX; refsums; AicardiGoutieres. http://www.ulf.org/ulf/video/

U NITED L EUKODYSTROPHY F OUNDATION 2304 Highland Drive * Sycamore, Illinois USA 60178 * Phone: (800) 728-5483 * FAX: (815) 895-2432 Videotapes Videotapes of ULF National Conference sessions are available for rent by our members for a two week period on an as-available basis. Tapes will be mailed immediately upon availability. Videotapes (VHS) may also be purchased by both members and non-members. Please print this page and use it as an order form or email us and request an order form. Send the completed form to the above address along with your payment and your address information. Payment accepted by money order, check, Master Card or Visa. Item # Title/Description Approx. Length Rental Fee Purchase Price Accessing Appropriate Education. C.Cox; B. Welling 1999 60 min Alternative Medicine S.Reeves 1999 75 min Moser, Chair 1998 3 hrs. Aquatic Therapy. Demonstration of aquatic therapy techniques at Johns Hopkins 30 min Aquatic Therapy. John Askew, P.T. 90 min. Aquatic Therapy for Adult Patients. Askew 1998 90 min.

48. BRPS Newsletter refsums is a recessive genetic disorder affecting not just the retina, but alsoseveral other bodily In most people the disease can be controlled by diet. http://www.brps.demon.co.uk/White/W_Newsletter_Spring_2002.html

BRPS Newsletter Graphics and Text ] or [ Yellow Text on Black Background RP FIGHTING BLINDNESS NUMBER 102 Spring 2002 The Newsletter of the British Retinitis Pigmentosa Society In This Issue:- Editorial Secretary's Notes AGM 2002 Research News Welfare News To Eat or Not To Eat Right Direction Genetics and Insurance Workshops That's The Way Summer is Coming Branch News Obituary BRPS is grateful to the Clothworkers' Foundation for sponsorship of this newsletter. British Retinitis Pigmentosa Society Registered Charity Number 271729 Editor Mr S D Higgins, 54 Paddock Road, Newbury, RG14 7DG Hon. Secretary Mrs Lynda Cantor MBE BRPS, PO Box 350, Buckingham, MK18 1GZ Tel: 01280 821334, for office enquiries FAX: 01280 815900 E-Mail: lynda@brps.demon.co.uk BRPS Web Site: http://www.brps.demon.co.uk Hon. Welfare Manager Mrs Anne Fisher 4 Middle Street, Thriplow, Royston, Herts, SG8 7RD Tel: 01763 208045 Helpline Number: 01280 860363 Membership Subscriptions: Single Membership £10 Subscriptions are due on 1st January each year and should be made payable to the BRPS, and sent to the Secretary at BRPS, PO Box 350, Buckingham, MK18 1GZ. Any donations above the £10 subscription will be most welcome and received with grateful thanks.

49. Climb - Providing Information And Support For Those Affected By A Metabolic Dise Pyruvate Dehydrogenase Def/Lactic. Pyruvate Dehydrogenase Def/Leighs disease. PyruvateKinase Deficiency. refsums Leukodystrophy. refsums Leukodystrophy Infantile. http://www.climb.org.uk/Dislist.htm

C hildren L iving with I nherited M eta b olic Diseases List of Currently Supported Diseases This list is currently being updated to include access to additional information on each Metabolic Disease. Where the symbol appears next to a disease this indicates that additional information is available. All additional information is correct at time of publishing and whilst this information has been fully research and checked Climb accepts no responsibility for any errors or omissions. 2 Methyl Acetoacetyl CoA Thiolase Deficiency 3 Hydroxybutyrate 3 Hydroxyl-Methyl Glutaryl CoAlyase Def 3 Methylglutaconic Aciduria 3 Methylglutaconic Aciduria type IV 4-Hydroxybutyric Aciduria 4-Hydroxybutyric Aciduria X Ref Succinic Semi Aldehyde Dehydrogenase 5 Alpha Reductase Def 5 Oxoprolinuria 5 Oxoprolinuria Unspecified Abetalipoprotinaemia Abetalipoprotinaemia and Autism Achondroplasia Achondroplasia - Pseudo Acrodermatitis Enteropathica ACTH Deficient Addison's Addison's - Unspecified ALD Adenosyl Cobalamin Receptor Defect ADHD - (Attention Deficit Hyperactive Disorder) Adrenal Hyperplasia Adrenal Hyperplasia - 11 Beta Hydro Adrenal Hyperplasia - 17 hydroxylas Adrenal Hyperplasia - 17 Ketosteroid Reductase Def Adrenal Hyperplasia - 17 Ketosteroid Reductase Def Unspecified Adrenal Hyperplasia - 20/22 Desmola Adrenal Hyperplasia - 21 Hydroxylase Def Adrenal Hyperplasia - Adreno Genital Syndrome Adrenal Hyperplasia - Congenital Adrenal Hyperplasia - late onset

50. CLIMB (Children Living With Inherited Metabolic Disease) Pelizaeus Merzbacher refsums Zellweger Lipodystrophy Lowe Syndrome MADD Glutaricaciduria type 2 Mannosidosis Alpha/beta Maple Syrup disease - Marfan http://www.medhelp.org/amshc/amshc452.htm

Title: Purine Research Society Description: Support for persons affected by purine metabolic disorders caused by a defective gene resulting in the production of an enzyme with too little to too much catalytic activity. Purine metabolic diseases include gout, purine autism, Lesch-Nyhan syndrome, ADA deficiency, and others. Funds research to find the defective enzyme responsible for purine autism, the largest single sub-group of autism, and treatment methods including newborn screening. Information on purine restricted diet, referrals. Scope: Model Founded: Address: c/o Tahma Metz 5424 Beech Ave. Bethesda, Maryland, 20814 United States Telephone: Tahma Metz (301)530-0354 Fax: Email: purine@erols.com Web Address: http://www2.dgsys.com/~purine/ This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to ed@selfhelpgroups.org Updated: 02/2003

51. Optic Atrophy Benign intracranial hypertension young fat woman on the pill! Consecutive Retinitispigmentosa - refsums's disease, Friedreich's ataxia; Chorioretinitis; http://www.users.dircon.co.uk/~rosebud/mrcp/ns_oa.htm

Optic atrophy Features: Pale disc Absent direct light reflex Primary Nutritional - Vitamin B12, tobacco-alcohol Toxic - Lead, methanol, arsenic, insecticides, quinine Ischaemic, Diabetes, Temporal arteritis Demyelination - Multiple sclerosis Leber's optic atrophy - men 6:1 women Infective - Tertiary syphilis Secondary Papilloedema - the disc margin is blurred eg due to raised intracranial pressure, or Paget's Benign intracranial hypertension - young fat woman on the pill! Consecutive Retinitis pigmentosa - Refsums's disease, Friedreich's ataxia Chorioretinitis Central retinal artery occlusion Differential diagnosis Young man Leber's Toxic Congenital MS Young woman BIH MS ELderly Ischaemic Temporal arteritis Paget's

52. Metabolic Diseaese Children Self Help And Support Groups Leukodystrophy refsums Leukodystrophy - Zellweger Lipodystrophy Lowe Syndrome MMADD (Glutaric aciduria type 2) Mannosidosis (Alpha/beta) Maple Syrup disease http://www.webhealth.co.uk/Self_Help_and_Support_Groups_R/Metabolic_Diseaese_Chi

METABOLIC DISEASES IN CHILDREN Climb About Climb We are a national umbrella organisation working on behalf of children, young people and families affected by metabolic disease. Our aim is "To ensure the best possible quality of life for children and families affected by metabolic disease and alleviate their suffering with the ultimate aim of prevention and cure." We do this by funding research and facilitating medical treatment providing information, counselling and advice for families and professionals supporting families through grants to help meet equipment and other costs educating professionals and others about this group of diseases In doing this we: affirm the right of families to access services of a consistently high quality; affirm families' right to information which is accurate, up to date and which they will understand, about their child's condition; complement the other services that exist;

53. Peripheral Nervous System Prognosis progressive disease with death within 5 years of onset; Rilutek. PeripheralNerve disease hereditary CharcotMarie-Tooth, refsums, etc., etc., etc. http://www.qualityoflife.org/fprp/noontopics/030998.htm

Peripheral Nervous System Dr. Paula Toth-Russell March 9, 1998 Motor Unit: alpha-motor neuron, its axon, and all the muscle fibers it innervates exists in the brainstem and spinal cord for small, fine muscles, 1:1 ratio alpha-MN to muscle for large muscles, 1 alpha-MN innervates hundreds of muscles each muscle fiber receives innervation from only one axon terminal Pathology: death of MN or interruption of axon results in paralysis of all muscle fibers of that motor unit if the axon regenerates, the motor unit can be re-established if the axon does not regenerate, the muscle fiber dies because of lack of stimulation a remaining healthy axon may sprout collaterals to innervate denervated muscle fibers Fasciculation: disease state marked by destabilized membrane of alpha-MN or axon; impulses arise spontaneously; all muscle fibers attached to the axon contract visible ripple or twitch on part of the muscle Fibrillation: contraction of hypersensitive denervated muscle fiber cannot be seen visually; can be detected with electromyography Motor Neuron Disease LMN: disease process selectively destroys alpha-MN Poliomyelitis: acute inflammatory viral infection May affect only a segment of the cord, causing selective lower motor neuron signs at that level (i.e., flaccid weakness, atrophy, fasciculation)

54. Emcornea V. Tumors, nonpigmented pigmented. Cornea and External disease. I. Basics. papilla. MENType IIb, icthyosis, Hanson's. keratoconus, refsums, Fuchs corneal dystrophy. http://mail.ml.usoms.poznan.pl/eyemanual/emcornea.htm

Department of Ophthalmology and Visual Sciences The Online Eye Manual / Corneal and External Disease Cornea and External Disease While every attempt has been made to have dosages, medications, and treatment recommendations as accurate and up to date as possible, this manual is no substitute for clinical judgement and knowledge. UIC and the authors are not liable for any action taken on the basis of this database. I. Basics papilla follicles membrane ... II. Lids/conjunctiva congenital medicamentosa conjunctivitis chlamydia allergy blepharitis subconj. hemorrhage superglue in eye kaposi's sarcoma III. Cornea congenital anomalies infections degenerations dystrophies IV. Misc. dry eyes exposure eyelid burns erythema multiforme OCP recurrent erosions metabolic disorders vitamin A deficiency iris degenerations V. Tumors nonpigmented pigmented Cornea and External Disease I. Basics papilla vascular response- central vascular tuft if giant, the differential includes atopy, vernal, GPC

55. - Index Of Tests - 'R ' Rectal biopsy for Hirschprungs disease, Tissue; Red cell cholinesterase,; Red Cell ReducingSubstances, Urine; refsums, Plasma; Renal biopsy for histology, Tissue; http://www.chl.govt.nz/chlabs/tests/lstr.htm

56. Diagnoser Paramyotonia, • Dystrophia myotonia (Steinerts disease), Brosjyre, Spinalemuskelatrofier, Friedreichs Ataxi, Brosjyre, Info. • refsums sykdom, http://www.ffm.no/Diagnose.shtml

Diagnoser Brosjyre eller Info Muskeldystrofier Brosjyre • Duchennes muskeldystrofi (DMD) Brosjyre Info • Becker muskeldystrofi Brosjyre • Limb Girdle muskeldystrofi (scapulopeonal og scapulohumeral) Brosjyre Info • Facioscapulohumeral muskeldystrofi Brosjyre Info • Congenitt muskeldystrofi • Ocular muskeldystrofi • Distal muskeldystrofi • En rekke sjeldnere tilstander Congenitte myopatier Brosjyre Omfatter ca. 30 forskjellige og meget sjeldne sykdommer, bl.a. • Central core disease • Nemalin myopati • Mitochondrial myopati • Myotubuolar myopati Myotonia • Myotonia congenita (recessive og dominante typer) • Paramyotonia • Dystrophia myotonia (Steinerts disease) Brosjyre Spinale muskelatrofier • Congenitt hypotonia • Amyotrofisk Lateralsklerose (ALS) Brosjyre Info • Spinale muskelatrofier type 1, 2, 3 (SMA) Brosjyre Info Sykdommer ved overgang nerve-muskel • Myasthenia Gravis (MG) Brosjyre Info • Lambert-Eaton Myasthenic Syndrom (LEMS) Inflammatoriske myopatier Omfatter bl.a. • Polymyositis • Dermatomyositis Perifere nevropatier Brosjyre Omfatter bl.a. • Charcot-Marie-Tooth sykdom (CMT) Brosjyre Info • Dejerine-Sottas sykdom (CMT type 3) Brosjyre • Friedreichs Ataxi Brosjyre Info • Refsums sykdom Metbolske forstyrrelser Omfatter en rekke mangelsykdommer, bl.a.

57. Essential Fatty Acids - The Fat You Need To Eat Psoriasis refsums Syndrome Reyes Syndrome Rheumatoid Arthritis SchizophreniaSepsis (Infection) SjogrenLarson Syndrome Stroke Vascular disease Vision. http://www.40-30-30.com/fatacid.htm

ESSENTIAL FATTY ACIDS 80% of Americans are deficient in the essential fatty acids! The term essential fatty acids (EFAs), suggests that there are certain fatty acids essential to the body, and that is correct. Like other essential nutrients not produced in the body, EFAs must be ingested (consumed in our diets) if the body is to have access to them. Those of us who live in North America have learned a great deal about the other important nutrients and the diligent among us are getting them into our nutrition program. But the two essential fatty acids - linoleic acid and linolenic acid - have been largely ignored by the food, food supplement, and vitamin companies, and are just now beginning to come into their own. (Note that some sources add arachidonic acid to the list of essential fatty acids, but most do not.) Interestingly enough, the essential fatty acids are two of the most important of all the essential elements, ranking right up there with protein, as protein and the EFAs work hand in hand with each other. The Omega-3 oil (linolenic acid) and Omega-6 oil (linoleic acid) are two essential fatty acids that together: - form the membrane of every one of the billions of cells in our bodies - control the way cholesterol works in our systems - make up a very large part of the brain’s active tissues - are the only fats that become prostaglandins Prostaglandins and the essential fatty acids play an important role in keeping the body in good working order, such as:

58. Metabolske Forstyrrelser (E70-E90) E71.0, Maple syrup urine disease . Sykdom med forstyrrelse i leucin, isoleucin,valin og alloisoleucinmetabolismen. Ekskl refsums sykdom (G60.1). http://www.odont.uio.no/allmennodontologi-voksen/ICD10SOK/icd10/KIV_8.htm

Metabolske forstyrrelser (E70-E90) Ekskl: 5-a-reduktasemangel ( androgent resistens-syndrom ( Ehlers-Danlos syndrom ( hemolytiske anemier som skyldes enzymforstyrrelser ( Marfans syndrom ( medfødt binyrebarkhyperplasi ( Forstyrrelser i metabolismen av aromatiske aminosyrer Klassisk fenylketonuri Føllings sykdom Andre hyperfenylalaninemier Forstyrrelse i tyrosinmetabolismen Alkaptonuri Hypertyrosinemi Okronose Tyrosinemi Tyrosinose Albinisme Albinisme: - okulokutan - okulær Syndrom: - Chediak(-Steinbrinck)-Higashis - Cross' - Hermansky-Pudlaks Andre spesifiserte forstyrrelser i metabolismen av aromatiske aminosyrer Forstyrrelser i: - histidinmetabolismen - tryptofanmetabolismen Uspesifisert forstyrrelse i metabolismen av aromatisk aminosyre Forstyrrelse i metabolismen av grenede aminosyrer og fettsyrer "Maple syrup urine disease" Sykdom med forstyrrelse i leucin, isoleucin, valin og alloisoleucin-metabolismen Andre forstyrrelser i metabolismen av grenede aminosyrer Hyperleucin-isoleucinemi Hypervalinemi Isovalerinacidemi Metylmalonacidemi Propionacidemi Uspesifisert forstyrrelse i metabolismen av grenede aminosyrer Forstyrrelse i metabolismen av fettsyrer Adrenoleukodystrofi [Addison-Schilder] Mangel på carnitinpalmityltransferase i muskel Ekskl: Refsums sykdom ( Schilders sykdom ( Zellwegers syndrom ( Andre forstyrrelser i aminosyremetabolismen Ekskl: forstyrrelse i metabolismen av: - aromatiske aminosyrer ( - fettsyrer ( - grenede aminosyrer ( - purin og pyrimidin ( unormale funn uten diagnose (

59. Foreningen For Muskelsyke recessive og dominante typer), paramyotonia, dystrophia myotonia (Steinerts disease). HMSN3-Dejerine-Sotta type, Friedreichs ataxia, refsums sykdom m.fl. http://www.barnesia.com/Foreldreside/Barnehabilitering/Brukergrupper/Foreningen

Foreningen for Muskelsyke (FFM) Besøksadresse: Kjelsåsveien 174 B Postboks 4395, Torshov 0402 OSLO Telefon: Telefax: e-post: ffm@ffm.no Hjemmeside: http://www.ffm.no Kompetansesenter: Frambu Leder: Hilde Westgaard Horge Medlemsblad: Muskelsyk ( 4 nr pr år ) FFM omfatter følgende nevromuskulære sykdommer: Muskeldystrofier: Duschenne-type, Becker-type, limb-girdle(scapulopeoneal og scapulohumeral), facioscapulohumeral-type, congenitt muskeldystrofi, ocular muskeldystrofi, distal muskeldystrofi og en rekke sjeldnere tilstander. Congenitte myopatier: Omfatter ca. 30 forskjellige og meget sjeldne sykdommer, bl.a. central core disease, nemalin myopati, mitochondrial myopati, myotubular myopati. Myotonia: Myotonia congenita (recessive og dominante typer), para-myotonia, dystrophia myotonia (Steinerts disease). Spinale muskeldystrofier: Congenitt hypotonia Amyotrofisk lateral sklerose (ALS) De spinale muskeldystrofiene: Type 1: Alvorlig - Barnet kan ikke sitte og dør ofte av lungeproblemer i tidlig småbarnsalder. Type 2: Moderat - Barnet kan sitte, men ikke gå.

60. Kap4 Maple syrup urine disease (MSUD) E71.0 Andra rubbningar i omsättningen av grenade Acylco-enzymA-dehydrogenas brist E71.3C Utesluter refsums sjukdom (G60.1 http://www.svls.se/sektioner/blf/blfbad/Kap4.htm

Ctrl+Home - till början av sidan Ctrl+End - till slutet av sidan Pg Up/Pg Dn - flytta en bildruta upp eller ned BAD 97 Förord/anvisningar till BAD 97 Sök ord/diagnoser i respektive kapitel med Redigera/Edit och Sök/Find Åter till BLF's hemsida Åter till innehållsförteckningen Kapitel IV - Endokrina sjukdomar, nutritionsrubbningar och ämnesomsättningssjukdomar (E00-E90) Sjukdomar i sköldkörteln (E00-E07) Jodbristsyndrom, medfött UNS #E00.9 Kretinism, medfödd, endemisk, UNS #E00.9 Struma, jodbristrelaterad, ospecificerad #E01.2 Jodbristhypotyreos, subklinisk #E02 Hypotyreos, medfödd, med struma #E03.0 Hypotyreos, medfödd, utan struma #E03.1 Postinfektiös hypotyreos #E03.3 Hypotyreos, ospecificerad #E03.9 Myxödem UNS #E03.9 Atoxisk diffus struma #E04.0 Atoxisk multinodulär struma #E04.2 Atoxisk struma UNS #E04.9 Hypotyreos, postoperativ #E89.0 Tyreotoxikos (Basedow, Grave's disease): med diffus struma #E05.0

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