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61. SLCentral Directory - Health - Conditions And Diseases - M
4); Marfan Syndrome@ (37); MarieSainton Disease@ (4); marinesco-sjogren syndrome@ (5); Master s Disease@ (4); Mayer Rokitansky Kuster
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  • 62. Useful Links
    Marfan Syndrome National Marfan Foundation http//www.marfan.org/; marinescosjogren syndrome Support Website http//www.marinesco-sjogren.org;
    http://www.genetichealthvic.net.au/pages/links.html

    interstate Australasian genetic service
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    63. M In Health > Conditions And Diseases
    4); Marfan Syndrome@ (37); MarieSainton Disease@ (4); marinesco-sjogren syndrome@ (5); Master s Disease@ (3); Mayer Rokitansky Kuster
    http://ilectric.com/glance/Health/Conditions_and_Diseases/M/
    Home Metasearch Browse News ... Login/Out
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    64. United Mitochondrial Disease Foundation - Medical Article List By Subject
    Berio ; A ; 3202 hem ; marinescosjogren syndrome with chronic progressive ophthalmoplegia caused by presumed defective oxidative phosphorylation ; Pediatr Med
    http://biochemgen.ucsd.edu/umdf/oxphos.htm
    The UMDF Medical Article List
    Subject: Oxidative Phosphorylation
    Back to the Subject List United Mitochondrial Disease Foundation We welcome any suggested additions to our list. Last updated: 26-Jun-98 REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers Bentlage ; H ; 605* ; Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies. ; 1995 ; 227(3) ; 909-15 Berio ; A ; 3202 hem ; Marinesco-Sjogren syndrome with chronic progressive ophthalmoplegia caused by presumed defective oxidative phosphorylation ; Pediatr Med Chir ; 1996 ; 18(1) ; 99-103 Bioulac-Sage ; P ; 847 ; Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liver. ; Hepatology ; 1993 ; 18(4) ; 839-46 Casta ; A ; 5758 ; Perioperative white matter degeneration and death in a patient with a defect in mitochondrial oxidative phosphorylation. ; Anesthesiology ; 1997 ; 87(2) ; 420-5

    65. Mesothelioma Cancer
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    66. Baylor Neurology Case Of The Month
    Hartnup disease, juvenile GM2 gangliosidosis, juvenile sulfatide lipidosis, maple syrup urine disease, marinescosjogren syndrome, Refsum disease, pyruvate
    http://www.bcm.tmc.edu/neurol/challeng/pat25/summary.html
    Patient #25
    Summary and Discussion
    Diagnosis:
    Friedreich's Ataxia Patient #25 presented with progressive gait and limb ataxia, mild distal symmetrical sensory loss, dimished deep tendon reflexes, weakness of the gluteal muscles, and bilateral extensor plantar responses. These findings indicate cerebellar, peripheral nerve (or dorsal root ganglion), and corticospinal involvement and imply a multisystem degenerative disease. There was no evidence of autonomic dysfunction, and eye movements were left unaffected. Extrapyramidal involvement was not present arguing against one of the Multi-System Atrophies (MSAs), such as olivopontocerebellar atrophy (OPCA). The most salient feature in this case is the patient's marked progressive ataxia. Ataxia may be due either to cerebellar or proprioceptive dysfunction, though it is rarely difficult to distinguish the two. However, when both are present, diagnostic difficulties arise. The findings in this case - gait and limb ataxia, titubation, loss of check response, and dysdiadochokinesia - point to an abnormality in the cerebellar system. This patient also had evidence of a peripheral neuropathy with involvement of the posterior columns evidenced by decreased position and vibratory sense. The degree of proprioceptive abnormality was not sufficient to explain the marked gait disturbance, however. While this patient exhibited dysfunction in both the cerebellar and proprioceptive systems, the cerebellar involvement was most impressive. The primary defect, therefore lies somewhere in the connections to, from, or within the cerebellum.

    67. NR Workshop 2000 Cases
    2, 11, ?, , marinescosjogren syndrome. 2, 12, , , Wilson disease(subgroup; pseudosclerosis).
    http://nrws2000.umin.ac.jp/cases.html
    Presented Cases at NRWS2000
    Sessions presided by
    IVR i²‰êˆã‰È‘åŠwj
    1. Ž›]æ¶i–kŠC“¹‘åŠwj
    2. ˆä“cæ¶i“s—§‰`Œ´•a‰@j
    3. ŽO–ؐ搶iˆ¤•Q‘åŠwj
    ²X–ؐ搶 iŠâŽèˆã‰È‘åŠwj
    âE“cæ¶ i•l¼ˆã‰È‘åŠwj
    ‚ª•K—v‚Å‚·Bj
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    (1)Mac‚Ü‚½‚ÍWindows format ‚Ì 3.5inch MOi—e—Ê‚Í128M‚©‚çGIGAMO‚܂Łj1–‡ (2)•Ô‘——p••“›iˆ¶–¼‚ð‹LÚ‚µ‚½‚à‚̂ŁC‚Å‚«‚ê‚ÎŒúŽè‚Ì‚à‚Ì‚ª‚Ì‚¼‚Ü‚µ‚¢j §141-8625 “Œ‹ž“s•iì‹æ“ŒŒÜ”½“c5-9-22
    Session No. Presenter Site Diagnosis “n•Ó ‰”V Desmoplastic Cerebral Astrocytoma of Infancy ŒIŒ´@‹IŽq ‘—§å‘ä•a‰@ Hemangioblastoma Extraventricular ependymoma âE“c@Ž¡•v •l¼ˆã‘å Subacute combined degeneration of spinal cord –kŒ´@‹Ï ‹ž“sŽs—§ Subacute necrotizing myelopathy “Þ—ÇŒ§—§ˆã‰È‘åŠw Acute Postasthmatic Amyotrophy (Hopkins' syndrome) ²“¡@“TŽq ŒQ”n‘åŠw Cavernous angioma A“c •¶–¾ ‹à‘ò‘åŠw Myotonic Dystrophy àV“c ÍG Adult-onset SSPE ˆ²àV@Ls ‡“V“°‘åŠw Mixed pineocytoma and pineoblastoma ’†–ì@¶˜aŽq ‹ž“sŽs—§ Marinesco-Sjogren syndrome ŠOŽR –FO ìˆã‰È‘åŠw Wilson disease(subgroup; pseudosclerosis)

    68. Marinesco-Sjogren-Garland Syndrome Information Diseases Database
    marinescosjogren-Garland syndrome Cataract-oligophrenia syndrome, Disease Database Information marinesco-sjogren-Garland syndrome Definition(s) via UMLS ..Code translations and terms via UMLS
    http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=31430

    69. Sjogren Syndrome : Information For Health Professionals And Interested Layperson
    Sjogren syndrome Information for health professionals and interested laypersons on http//www.marinescosjogren.org. http//ourworld.compuserve.com/homepages/ bssassociation
    http://www.health.xq23.com/arthritis/Sjogren_syndrome.html
    Sjogren syndrome : Information for health professionals and interested laypersons on Arthritis, Osteoarthritis, and Rheumatoid Artheritis.
    Recommended References and Products. [see index for total category]
    Books:

    The New Sjogren's Syndrome Handbook
    by Steven Carsons
    Understanding Sjogren's Syndrome
    by Sue Dauphin
    Autoimmune Diseases: Focus on Sjogren's Syndrome (Ucl Molecular Pathology)
    by Isenberg
    by Robert P. Sundel
    Diseases of the Salivary Glands: Including Dry Mouth and Sjogren's Syndrome Diagnosis and Treatment
    by Isaac Van Der Waal
    Sjogren's Syndrome: Clinical and Immunological Aspects
    by N. Talal
    Sjogren's Syndrome: The Sneaky 'Arthritis'
    by Sue Dauphin
    Molecular Genetic Studies of 3 Autosomal Recessive Disorders: Sjogren-Larsson Syndrome, Glutathione Synthetase Deficiency and Congenital Ichthyosis)
    by Maritta Pigg Systemic Lupus Erythematosus and Sjogren's Syndrome: Pediatric and Heritable Disorders by Norman Talal Sjogren's Syndrome Handbook by Elaine K. Harris Airway Responsiveness and Exhaled Nitric Oxide: Studies in Asthma and Sjogren's Syndrome (Comprehensive Summaries of Uppsala Dissertations, 857) by Dora Ludviksdottir Sjögrens Syndrome - State of the Art by Mitsuo Homma Sjogren's Syndrome: Papers Based on an International Meeting in Austin, Texas, Usa, in October 1988

    70. Marinesco-Sjögren Syndrome Support Group
    Website http//www.marinescosjogren.org. E-mail marinesco-sjogren@pacbell.net. Conditions Marinesco-Sjögren syndrome
    http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Mari

    71. ORPHANET® : Marinesco-Sjogren, Syndrome De
    Translate this page ORPHANET. Accès à la base de données Orphanet. marinesco-sjogren, syndrome de. Accès direct aux détails Résumé Le syndrome de
    http://www.orpha.net/static/FR/marinescosjogren.html
    Accès à la base de données Orphanet
    Marinesco-Sjogren, syndrome de
    Accès direct aux détails Résumé
    Le syndrome de Marinesco-Sjögren associe une cataracte congénitale, un retard psycho-moteur et une ataxie cérébelleuse. Les muscles squelettiques présentent une atrophie d'origine neurogène, une dégénérescence vacuolaire et une augmentation de la variabilité du calibre des fibres musculaires. Il est vraisemblable qu'il s'agisse d'une maladie lysosomale bien que l'anomalie enzymatique n'ait pas encore été identifiée. En cas de suspicion clinique, l'examen d'une biopsie conjonctive peut permettre de révéler une augmentation très nette du nombre des lysosomes dans les fibroblastes. Il semble que les patients aient une concentration sérique basse de vitamine E et une absence de chylomicrons en période post-prandiale. Ce syndrome est transmis sur un mode récessif autosomique. *Auteur : Dr S. Aymé (septembre 2002)*. Signes de la maladie
    • ATAXIE / INCOORDINATION
    • CATARACTE
    • HYPOTONIE
    • MOUVEMENTS ANORMAUX
    • PETITE TAILLE / NANISME
    • RETARD MENTAL SEVERE
    • RETARD PUBERTAIRE/HYPOGONADISME
    • TRANSMISSION AUTOSOMIQUE RECESSIVE
    • CONVULSIONS EPILEPSIE
    • CYPHOSE
    • DIPLEGIE/PARAPLEGIE/QUADRIPLEGIE
    • HEMIPLEGIE / HEMIPARESIE
    • HYPERTONIE/RIGIDITE/SPASTICITE
    • MENOPAUSE PRECOCE/AMENORRHEE SECONDAIRE
    • NYSTAGMUS
    • PECTUS CARINATUM
    • PHONATION ANOMALIE / CRI FAIBLE OU AIGU
    • PIED BOT VARUS/VALGUS
    • PIED PLAT
    • SCOLIOSE
    • STRABISME
    • HYPOCALCEMIE
    • MAINS ANOMALIE
    • MICROCEPHALIE
    • PEAU GLABRE / ABSENCE DE POILS
    Mise à jour : 01/06/2004
    Accès à la base de données Orphanet

    72. ORPHANET - Maladies Rares - Médicaments Orphelins
    Translate this page Version pour Impression, MALADIE marinesco-sjogren, syndrome de, CIM E88.9, Le syndrome de Marinesco-Sjögren associe une cataracte
    http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=559

    73. Marinesco-Sjogren-Garland Syndrome Information Diseases Database
    marinescosjogren-Garland syndrome aka/or Cataract-oligophrenia syndrome Medical information linksmarinesco-sjogren-Garland syndrome specific sites.
    http://www.diseasesdatabase.com/ddb31430.htm
    Diseases Database Index Sponsors Contact ... Previous Page
    Marinesco-Sjogren-Garland syndrome Information
    Search
    2 synonyms or equivalents were found. Marinesco-Sjogren-Garland syndrome
    aka/or
    Cataract-oligophrenia syndrome Marinesco-Sjogren-Garland syndrome: Definition(s) via UMLS Code translations and terms via UMLS Marinesco-Sjogren-Garland syndrome: specific sites Send Marinesco-Sjogren-Garland syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these:
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    74. Marinesco Sjogren Syndrome
    Marinesco Sjogren syndrome Important It is possible that the main title of the report Marinesco Sjogren syndrome is not the name you expected.
    http://my.webmd.com/hw/health_guide_atoz/nord868.asp
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    You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Marinesco Sjogren Syndrome Important It is possible that the main title of the report Marinesco Sjogren Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms
    • Marinesco-Garland Syndrome Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism Marinesco-Sjogren Syndrome-Myopathy Marinesco-Sjogren Syndrome-Neuropathy Marinesco-Sjogren-Garland Syndrome Moravcsik-Marinesco-Sjogren Syndrome Myopathy-Marinesco-Sjogren Syndrome
    Disorder Subdivisions
    • None
    General Discussion Marinesco-Sjogren Syndrome is a rare disorder that is inherited through autosomal recessive genes. The major features of this disorder are a loss of muscle coordination as a result of disease in the cerebellum (cerebellar ataxia), loss of clearness in the eyes' lenses (cataract), increased muscle tension (spasticity), progressive muscle weakness, and mental deficiency.

    75. Index
    Marden Walker syndrome Mareo Marfan syndrome Marfanoid Hypermobility syndrome Marie Disease MarieSainton Disease Marinesco Sjogren syndrome Marinesco-Garland
    http://my.webmd.com/hw/index/index-topics-M.asp
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    You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Support Organizations Search the Help Health Topics Click a letter to see a list of topics beginning with that letter A B C D ... MY MA MAA Machado Disease Machado-Joseph Disease Macrocephaly, multiple lipomas, and hemangiomata ... back to top MC MCAD Deficiency McArdle Disease McCune Albright Syndrome MCD ... back to top ME Measles (Rubeola) Meckel Syndrome Meckel-Gruber Syndrome MED ... back to top Ménière's Disease back to top ME Menieres Menieres Disease Meningeal Capillary Angiomatosis Meningeal Fibroblastoma ... back to top MF back to top MG MG back to top MH MH MHA back to top MI MI Microangiopathic Hemolytic Anemia Microangiopathy of the Regina, Cochlea, and Brain Microcephalic Primordial Dwarfism I ... back to top MJ MJD back to top MK MKS back to top ML ML Disorder III ML Disorder IV ML Disorder, Type II

    76. Health Library
    Marcus Gunn Phenomenon. Marden Walker syndrome. Marfan syndrome. Marinesco Sjogren syndrome. Maroteaux Lamy syndrome. Marshall Smith syndrome. Marshall syndrome.
    http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/_SearchResul

    77. Health Library -
    Marinesco Sjogren syndrome. Important It is possible that the main title of the report Marinesco Sjogren syndrome is not the name you expected.
    http://12.31.13.29/library/healthguide/IllnessConditions/topic.asp?hwid=nord868

    78. Mioti: Diseases + Conditions
    Diseases + Conditions Marinesco Sjogren syndrome. Search Mioti
    http://www.mioti.com/cat/condition/condition.asp?Cat=MarinescoSjogren

    79. Mioti: Diseases + Conditions
    Marfan syndrome, • Marijuana Addiction. • Marinesco Sjogren syndrome, • Maroteaux Lamy syndrome. • Marshall Smith syndrome, • Marshall syndrome.
    http://www.mioti.com/cat/condition/results.asp?Alpha=M

    80. Marinesco Sjogren Syndrome: A Case Report.
    Marinesco Sjogren syndrome a case report. Neurology India. ABSTRACT Three members of one family suffering from Marinesco Sjogren syndrome are being reported.
    http://medind.nic.in/imvw/imvw10178.html
    Extracted from IndMED Surekha RK; Panagaria A; Sharma D Department of Neurolgy, SMS Medical College, Jaipur, India. Marinesco Sjogren syndrome: a case report. Neurology India. 1997 Mar; 45(1): 28-30 ABSTRACT: Three members of one family suffering from Marinesco Sjogren syndrome are being reported. All the three cases had mental retardation, congenital bilateral cataracts and cerebellar ataxia. It is a rare autosomal recessive disorder. KEYWORDS: Spinocerebellar Degeneration/GE; Spinocerebellar Degeneration/CN; Mental Retardation/GE; Cataract/GE; Cerebellar Ataxia/GE; Case Report; Human; Male; Female; Adult Record Identifier: NM000387

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