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         Cerebrotendinous Xanthomatosis:     more detail

61. ORPHANET - Rare Diseases - Orphan Drugs
ICD E75.5, cerebrotendinous xanthomatosis (CTX) is an inborn error of acidbile synthesis and storage of sterols with onset in early childhood.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=909

62. POSTER NUMERO 17
Translate this page BIBLIOGRAFIA. 1. - Federico A., Dotti MT cerebrotendinous xanthomatosis. et al.cerebrotendinous xanthomatosis. Neurologic Clinics.Vol.7. número 1, 55-75.
http://neurologia.rediris.es/congreso-1/posters/p-17.html
POSTER NUMERO 17
TITULO
XANTOMATOSIS CEREBROTENDINOSA
AUTORES
F. Escamilla, R.M. Vilches, D. Fernández, C. Carnero y T. García. Dirección de correo electrónico: ccarnerop@meditex.es TITULO AUTORES RESUMEN ... VOLVER AL INDICE DE POSTERS
RESUMEN
Presentamos el caso y la iconografía de los rasgos fenotípicos así como de las alteraciones en las pruebas neurofisiológicas y de imagen más características de la xantomatosis cerebrotendinosa que nos permiten llegar al diagnóstico, con posterior diagnóstico de certeza al comprobar el aumento del colestanol plasmático y de los alcoholes biliares en orina.
INTRODUCCION
PRESENTACION DEL CASO
Mujer de 43 años, con antecedentes de afaquia bilateral por cataratas juveniles intervenidas y ligero retraso mental; fue remitida para estudio por alteración de la marcha progresiva a lo largo de 10 años, apreciándose sobre todo al caminar sobre planos inclinados. No refiere alteraciones esfinterianas, ni de la sensibilidad ni de la coordinación. La exploración general objetivó engrosamiento de ambos tendones aquíleos, en especial el derecho ( Figuras 1 y ); en el examen neurológico había una facies miopática y pie cavo bilateral, piramidalismo generalizado con clonus aquíleo y Babinski bilateral, espasticidad discreta en miembros inferiores, discreta paresia del grupo muscular anteroexterno del miembro inferior derecho, abolición distal de sensibilidad vibratoria, Romberg con baile de tendones y marcha ataxoparetoespástica, con un componente de estepaje en pie derecho, dificultad para caminar de talones bilateralmente. Exploraciones complementarias: analítica general, hemograma, hormonas tiroideas, proteinograma e inmunoglobulinas, vitamina B12, fólico, y estudios serológicos normales. EKG y radiografía de tórax sin hallazgos patológicos. EEG (

63. Xanthomatosis
adrenoleukodystrophy, PelizaeusMerzbacher disease, Canavan disease, Alexander disease,Zellweger syndrome, Refsum disease, and cerebrotendinous xanthomatosis.
http://www.websters-online-dictionary.org/definition/english/xa/xanthomatosis.ht
Philip M. Parker, INSEAD.
Xanthomatosis
Definition: Xanthomatosis
Xanthomatosis
Noun
. Widespread xanthomas (especially on elbows and knees); often associated with a disorder of lipid metabolism. Source: WordNet 1.7.1
Specialty Definition: Xanthomatosis
Domain Definition
Health
A condition of morphologic change in which there is accumulation of lipids in the large foam cells of tissues. It is the cutaneous manifestation of lipidosis in which plasma fatty acids and lipoproteins are quantitatively changed. The xanthomatous eruptions have several different distinct morphologies dependent upon the specific form taken by the disease. ( references Source: compiled by the editor from various references ; see credits. Top
Synonyms: Xanthomatosis
Synonyms: cholesterosis cutis (n), lipid granulomatosis (n), lipoid granulomatosis (n), xanthoma multiplex (n). ( additional references Top
Crosswords: Xanthomatosis
Specialty definitions using "xanthomatosis" Diabetes Mellitus, Lipoatrophic Wolman Disease references Top
Non-Fiction Usage: Xanthomatosis
Subject Topic Quote
Health
Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Alexander disease, Zellweger syndrome, Refsum disease, and cerebrotendinous

64. GeneCard For CYP27A1
cytochrome P450, subfamily XXVII (sterol 27hydroxylase, cerebrotendinousxanthomatosis) (GDB); GeneTests CYP27A1 cerebrotendinous xanthomatosis.
http://genecards.bcgsc.ca/cgi-bin/carddisp?CYP27A1

65. GeneCard For CYP27A1
Human Gene Nomenclature database symbol CYP27A1 (cytochrome P450, subfamily XXVIIA(steroid 27hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1).
http://www6.unito.it/cgi-bin/cards/carddisp?CYP27A1

66. Dorlands Medical Dictionary
knees, and heels, which occurs in association with certain types of hyperlipoproteinemia,tuberous xanthoma, xanthelasma, and cerebrotendinous xanthomatosis.
http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

67. Wauu.DE: Health: Conditions And Diseases: Nutrition And Metabolism Disorders: Ch
Wauu.DE Health Conditions and Diseases Nutrition and Metabolism DisordersCholesterol and Other Fats cerebrotendinous xanthomatosis.
http://www.wauu.de/Health/Conditions_and_Diseases/Nutrition_and_Metabolism_Disor
Home Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Cerebrotendinous Xanthomatosis Search DMOZ-Verzeichnis:
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68. Leukodystrophy
cerebrotendinous xanthomatosis is a type of Leukodystrophy which isrelated to the chemical cholestanol in the myelin sheath. It
http://www.bchealthguide.org/kbase/nord/nord676.htm
document.write(''); var hwPrint=1; var hwDocHWID="nord676"; var hwDocTitle="Leukodystrophy"; var hwRank="1"; var hwSectionHWID="nord676"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD";
National Organization for Rare Disorders, Inc.
Leukodystrophy
Important
It is possible that the main title of the report 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
  • None
Disorder Subdivisions
  • Refsum's Disease Cerebrotendinous Xanthomatosis Metachromatic Leukodystrophy Globoid Leukodystrophy Krabbe's Disease, Included Adrenoleukodystrophy Sudanophilic Leukodystrophy, Included Schilder's Disease Pelizaeus-Merzbacher Brain Sclerosis Alexanders Disease Canavan's Disease, Included
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
  • Multiple Sclerosis Gaucher's Disease Tay Sach's Disease
General Discussion
Leukodystrophy is the name given to a group of very rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each of the leukodystrophies will affect one of the chemicals that make up the myelin sheath or white matter of the brain, causing the various types of leukodystrophy. The myelin sheath, which acts as insulation of the nervous system, is composed of different lipids (fatty substances). Thus defects in production and degradation of these lipids can lead to the many ways in which these diseases can manifest themselves.

69. Erdheim Chester Disease
Database.) . cerebrotendinous xanthomatosis (CTX) is an extremely rare,inherited lipid storage disease that is present at birth. It
http://www.bchealthguide.org/kbase/nord/nord943.htm
document.write(''); var hwPrint=1; var hwDocHWID="nord943"; var hwDocTitle="Erdheim Chester Disease"; var hwRank="1"; var hwSectionHWID="nord943"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD";
National Organization for Rare Disorders, Inc.
Erdheim Chester Disease
Important
It is possible that the main title of the report 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
  • ECD
Disorder Subdivisions
  • None
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
  • Histiocytosis X (Langerhans Cell Histiocytosis) Associated Disorders (General)
General Discussion
Erdheim-Chester disease (ECD) is a rare multisystem disorder of adulthood. It is characterized by excessive production and accumulation of histiocytes within multiple tissues and organs. Histiocytes are large phagocytic cells (macrophages) that normally play a role in responding to infection and injury. (A phagocytic cell is any "scavenger cell" that engulfs and destroys invading microorganisms or cellular debris.) In those with ECD, sites of involvement may include the long bones, skin, tissues behind the eyeballs, lungs, brain, pituitary gland, and/or additional tissues and organs. Associated symptoms and findings and disease course depend on the specific location and extent of such involvement. The specific underlying cause of ECD is unknown.

70. Malaysia Medical Association
Malaysian Medical Association. Back . cerebrotendinous xanthomatosis withCholestanolaemia Involvement of Five Individuals in a Malay Family
http://www.mma.org.my/info/4_original_90.htm
Malaysian Medical Association Back Cerebrotendinous Xanthomatosis with Cholestanolaemia - Involvement of Five Individuals in a Malay Family
Nor Hayati Othman, MPath, Sabariah Abdul Rahman, MPath, Department of Pathology, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan Summary Cerebrotendinous xanthomatosis (CTX), a rare inherited lipid storage disease is due to a defect in bile acid metabolism. Involvement of five members of a family is presented. The clinical features, laboratory and pathologic findings are discussed. Tendinous and tuberous xanthomatosis, bilateral cataracts, cerebral impairment and raised serum cholestanol are the salient features. We believe this is the first report of CTX in Malaysia. Key Words : Cerebrotendinous Xanthomatosis, Cholestanolaemia, Involvement of Five Individuals in a Malay Family
Ultrasound in the Diagnosis of Palpable Abdominal Masses in Children
Zulfiqar Annuar, MMed*, Abdul Samad Sakijan, FRCR*, Norizan Annuar, DCP**, Goon Hong Kooi, FRACS***, *Departments of Radiology, **Pathology and ***Surgery, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur Summary Ultrasound examinations were done to evaluate clinically palpable abdominal masses in 125 children. The examinations were normal in 21 patients. In 15 patients, the clinically palpable masses were actually anterior abdominal wall abscesses or hematomas. Final diagnosis was available in 87 of 89 patients with intraabdominal masses detected on ultrasound. The majority (71%) were retroperitoneal masses where two-thirds were of renal origin. Ultrasound diagnosis was correct in 68 patients (78%). All cases of hydronephrosis were correctly diagnosed based on characteristic ultrasound appearances. Correct diagnoses of all cases of adrenal hematoma, psoas abscess, liver hematoma, liver abscess and one case of liver metastases were achieved with correlation of relevant clinical information.

71. OMIM - CEREBROTENDINOUS XANTHOMATOSIS

http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=213700

72. C Conditions And Diseases Health English
Cerebrohepatorenal Syndrome English Health Conditions and Diseases Genetic DisordersZellweger Syndrome ? cerebrotendinous xanthomatosis English Health
http://www.interactiva.org/Dir/I/English/Health/Conditions_and_Diseases/C/
www.interactiva.org English Deutsch Espa±ol ... C C : Health Conditions and Diseases C: Campylobacter Pylori: English Health Conditions and Diseases Digestive Disorders Stomach Peptic Ulcer Helicobacter Pylori
Canavan Disease: English Health Conditions and Diseases Neurological Disorders Demyelinating Diseases Leukodystrophy
Cancer: English Health Conditions and Diseases Cancer
Candida: English Health Conditions and Diseases Infectious Diseases Fungal Candida
Cardiomyopathy: English Health Conditions and Diseases Cardiovascular Disorders Heart Disease Cardiomyopathy
Carpal Tunnel Syndrome: English Health Conditions and Diseases Neurological Disorders Peripheral Nervous System Nerve Compression Syndromes Carpal Tunnel
Cataracts: English Health Conditions and Diseases Eye Disorders Cataract
Cat-Scratch Disease: English Health Conditions and Diseases Infectious Diseases Bacterial Bacillary Angiomatosis
Causalgia: English Health Conditions and Diseases Neurological Disorders Autonomic Nervous System Complex Regional Pain Syndromes Causalgia
Celiac Disease: English Health Conditions and Diseases Digestive Disorders Intestinal Celiac Disease
Central Auditory Processing Disorders: English Health Mental Health Disorders Child and Adolescent Learning Disabilities Central Auditory Processing Disorders Central Pontine Myelinolysis: English Health Conditions and Diseases Neurological Disorders Brain Diseases Metabolic Central Pontine Myelinolysis Cerebellar Diseases: English Health Conditions and Diseases Neurological Disorders Brain Diseases Cerebellar Cerebellar Vermis Agenesis:

73. Neurology -- Correspondence For , 55 (4) 601
Correspondence to NEUROIMAGES cerebrotendinous xanthomatosis Neurology2000; 55 601 Full text, cerebrotendinous xanthomatosis, 26 June 2001.
http://www.neurology.org/cgi/eletters/55/4/601
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NEUROIMAGES:
Cerebrotendinous xanthomatosis
Neurology 2000; 55: 601 [Full text]
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Reply to Federico
James D Fleck (26 June 2001)
Cerebrotendinous xanthomatosis
Antonio Federico, Maria Teresa Dotti (26 June 2001)
Reply to Federico 26 June 2001 James D Fleck,
Clinical Assistant Professor
University Hospital, Indianapolis Send Correspondence to journal:
Re: Reply to Federico
Email James D Fleck Until further data is published, chenodeoxycholic acid will remain the treatment of choice for cerebrotendinous xanthomatosis. We are pleased to hear that our colleagues in Italy have found a manufacturer willing to supply them with it. Cerebrotendinous xanthomatosis 26 June 2001 Antonio Federico

74. Human Protein: Q02318 - Cytochrome P450 27, Mitochondrial Precursor (EC -.-) (Cy
4, Cali,JJ, Hsieh,CL, Francke,U., Russell,DW, Mutations in the bile acid biosyntheticenzyme sterol 27hydroxylase underlie cerebrotendinous xanthomatosis.
http://harvester.embl.de/harvester/Q023/Q02318.htm
Human protein: Q02318 - Cytochrome P450 27, mitochondrial precursor (EC -.-) (Cytochrome P-450C27/25) (Sterol 26-hydroxylase) (Sterol 27-hydroxylase) (Vitamin D(3) 25-hydroxylase) (5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase). EMBL
FORUM Length: 531 aa , molecular weight: 60234 Da , CRC64 checksum: MAALGCARLR WALRGAGRGL CPHGARAKAA IPAALPSDKA TGAPGAGPGV RRRQRSLEEI 60 PRLGQLRFFF QLFVQGYALQ LHQLQVLYKA KYGPMWMSYL GPQMHVNLAS APLLEQVMRQ 120 EGKYPVRNDM ELWKEHRDQH DLTYGPFTTE GHHWYQLRQA LNQRLLKPAE AALYTDAFNE 180 VIDDFMTRLD QLRAESASGN QVSDMAQLFY YFALEAICYI LFEKRIGCLQ RSIPEDTVTF 240 VRSIGLMFQN SLYATFLPKW TRPVLPFWKR YLDGWNAIFS FGKKLIDEKL EDMEAQLQAA 300 GPDGIQVSGY LHFLLASGQL SPREAMGSLP ELLMAGVDTT SNTLTWALYH LSKDPEIQEA 360 LHEEVVGVVP AGQVPQHKDF AHMPLLKAVL KETLRLYPVV PTNSRIIEKE IEVDGFLFPK 420 NTQFVFCHYV VSRDPTAFSE PESFQPHRWL RNSQPATPRI QHPFGSVPFG YGVRACLGRR 480 IAELEMQLLL ARLIQKYKVV LAPETGELKS VARIVLVPNK KVGLQFLQRQ C 531 //
UniProt
ensEMBL Entrez RZPD ... EBI-Hinxton-"Uniprot-Swissprot-TrEMBL" database General information Entry name Accession number Created Rel. 26, 1-JUL-1993

75. Human Protein: Q86YQ6 - Steroid Hydroxylase. EMBL Bioinformatic Harvester
Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessivelipid storage disease. SwissProt Information. SwissProt Accession No.
http://harvester.embl.de/harvester/Q86Y/Q86YQ6.htm
Human protein: Q86YQ6 - Steroid hydroxylase. EMBL
FORUM Length: 531 aa , molecular weight: 60263 Da , CRC64 checksum: MAALGCARLR WALRGAGRGL CPHGARAKAA IPAALPSDKA TGAPGAGPGV RRRQRSLEEI 60 PRLGQLRFFF QLFVQGYALQ LHQLQVLYKA KYGPMWMSYL GPQMHVNLAS APLLEQVMRQ 120 EGKYPVRNDM ELWKEHRDQH DLTYGPFTTE GHHWYQLRQA LNQRLLKPAE AALYTDAFNE 180 VIDDFMTRLD QLRAESASGN QVSDMAQLFY YFALEAICYI LFEKRIGCLQ RSIPEDTVTF 240 VRSIGLMFQN SLYATFLPKW TRPVLPFWKR YLDGWNAIFS FGKKLIDEKL EDMEAQLQAA 300 GPDGIQVSGY LHFLLASGQL SPREAMGSLP ELLMAGVDTT SNTLTWALYH LSKDPEIQKA 360 LHEEVVGVVP AGQVPQHKDF AHMPLLKAVL KETLRLYPVV PTNSRIIEKE IEVDGFLFPK 420 NTQFVFCHYE VSRDPTAFSE PESFQPHRWL RNSQPATPRI QHPFGSVPFG YGVRACLGRR 480 IAELEMQLLL ARLIQKYKVV LAPETGELKS VARIVLVPNK KVGLQFLQRQ C 531 //
UniProt
ensEMBL Entrez RZPD ... EBI-Hinxton-"Uniprot-Swissprot-TrEMBL" database General information Entry name Accession number Created TrEMBLrel. 24, 1-JUN-2003 Sequence update TrEMBLrel. 24, 1-JUN-2003

76. HumanLife
isomerase, mucolipidosis IV, familial amaurotic idiocy, neuronal ceroid lipofuscinosis,cerebrotendinous xanthomatosis, adrenoleukodystrophy, developmental
http://www.vency.com/InbornDiseases.html
INBORN ERRORS In 1982 the recorded number of human disorders
inherited in simple mendelian fashion/caused by a mutant single gene
amounts to 3,368
[McKusic, V.A., 'Mendelian Inheritance in Man', 6th ed.,Johns Hopkins Univ. Press, Baltimore, 1983]
The clinical effects of the inborn errors of metabolism vary from lethality in utero or in early postnatal life, to very severe handicap [Tay-Sachs disease, Hurler's syndrome, homozzygous talassemia, Lesch-Nyan syndrome, Duchenne muscular dystrophy, Huntington's disease, etc.], to restricted life expectancy , to harmlessness. For most inborn errors,
therapy is virtually nonexistent, at present.
'Of about 120,000 US babies born each year with a birth defect, 8,000 die during their first year of life......birth defects are the fifth-leading cause of years of potential life lost and contribute substantially to childhood morbidity and long-term disability."
http://www.cdc.gov/nceh/cddh/BD/bdpghome.htm
Most frequent clinical features of inborn diseases Apathy, ataxia

77. CHENODEOXYCHOLIC ACID Prescription Drug Information - Buy, Purchase Or Order CHE
Featured Supplier (Ad.) http//www.neis.com/ NEJM Longterm treatmentof cerebrotendinous xanthomatosis with chenodeoxycholic acid
http://www.thedrugdatabase.com/directory/C/Chenodeoxycholic_acid
Search for Drug Information Resources: The Drug Database C > Chenodeoxycholic acid
Top 10 Sponsored Chenodeoxycholic acid Information Resources
Chenodeoxycholic acid Information Diseases Database
Chenodeoxycholic acid ,Chenodiol, Disease Database Information ... Chenodeoxycholic acid Chenodeoxycholic acid
http://www.diseasesdatabase.com/
Chenodeoxycholic acid

A commonly used name is chenodeoxycholic acid . *† Not commercially available in the U.S. and Canada. Chenodiol (kee-noe-DYE-ole) is used in the treatment of gallstone disease. It is taken by ...
http://www.healthtouch.com/
Genesis Health System - Alternative Medicine General Info - Chenodeoxycholic Acid

Facility Information DeWitt Comm Hosp Genesis Medical Ctr Illini Hospital Genesis Health Grp VNA Chenodeoxycholic Acid What is it? Chenodeoxycholic acid is a bile acid that is used to treat ...
http://www.genesishealth.com/
Formation of ursodeoxycholic acid from chenodeoxycholic acid by a 7 beta-hydroxysteroid dehydrogenase-elaborating Eubact

Formation of ursodeoxycholic acid from chenodeoxycholic acid by a 7 beta-hydroxysteroid dehydrogenase-elaborating Eubacterium aerofaciens strain cocultured with 7 alpha-hydroxysteroid ...

78. CHOLESTYRAMINE
cholestyramine. Hydrophilic 7betahydroxy bile acids, lovastatin, and cholestyramineare ineffective in the treatment of cerebrotendinous xanthomatosis.
http://mind-brain.com/abstracts.php?qa=cholestyramine

79. Indian Journal Of Dermatology __________________________________________________
cerebrotendinous xanthomatosis in a family. Gobinda Chatterjee, IndranilChakraborty, Tushar Kanti Das, Chhanda Datta A family consisting
http://www.e-ijd.org/jul_sept_99_abstracts.html
Vol 44 No 3
July - September 1999
ABSTRACTS
Study of clinical profile of allergic contact dermatitis in Pune
S K Sayal, A L Das, Ashok Kumar
One hundred and twenty five cases of clinically diagnosed allergic contact dermatitis were studied. All patients were subjected to patch test with standard test allergens and also with suspected test allergens based on history and clinical profile. Allergic contact dermatitis due to Parthenium hysterophorus was commonest and found in 64% cases, followed by wearing apparel and jewellery in 16.8%, topical medicaments in 8% and cosmetics and occupational contactants in 5.6% cases each. The common individual allergens other than parthenium, were nickel in 8.8%, leather, hair dye and cement in 3.2% each, nitrofurazone and petrol, oil, lubricant (POL) in 2.4% each. Patch test with suspected allergens was positive in 72% of cases.
Severity of ocular findings in different types of leprosy in relation to its duration
Pradip Kumar Keshri, Ashok Pathak, H K Kar, T R D Sinha
A study on 400 patients of leprosy was carried out to assess the ocular involvement in different types of leprosy. It was seen that duration of leprosy is one of the important factors responsible for the severity of ocular involvement. Early diagnosis and proper care have been stressed.

80. Cerebrotendinous Xanthomatosis
Prev Term cerebrospinal fluid shunt Next Term cerebrovascular accident cerebrotendinousxanthomatosis. Broader Terms myelinopathy Broader Terms
http://crisp.cit.nih.gov/Thesaurus/00001487.htm
Prev Term: cerebrospinal fluid shunt
Next Term: cerebrovascular accident
cerebrotendinous xanthomatosis
Broader Terms:
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