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ÀÇÇÐ³í¹® ¾àÀÚ(Pubmed/Entrez) °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 5 ÆäÀÌÁö: 15
  • JrId: 30370
    JournalTitle: Hua sheng xue bao = Journal of peanut science.
    MedAbbr:
    ISSN: 1002-4093
    ESSN:
    IsoAbbr: Hua Sheng Xue Bao
    NlmId: 101179848
  • JrId: 30393
    JournalTitle: Humane health care [electronic resource].
    MedAbbr: Hum Health Care
    ISSN:
    ESSN:
    IsoAbbr:
    NlmId: 101127032
  • JrId: 30465
    JournalTitle: Hua zhong shi fan da xue xue bao. Zi ran ke xue ban = Journal of Central China Normal University. Natural sciences edition.
    MedAbbr: Huazhong Shifan Daxue Xuebao Ziran Kexue Ban
    ISSN: 1000-1190
    ESSN:
    IsoAbbr:
    NlmId: 100967903
  • JrId: 30525
    JournalTitle: Human and experimental.
    MedAbbr: Nutr Abstr Rev Ser Hum Exp
    ISSN: 0309-1295
    ESSN:
    IsoAbbr:
    NlmId: 7802919
  • JrId: 32026
    JournalTitle: Huadong shifan daxue xuebao = Journal of East China Normal University.
    MedAbbr:
    ISSN: 1000-5641
    ESSN:
    IsoAbbr: Huadong Shifan Daxue Xuebao
    NlmId: 101227118
CancerWEB ¿µ¿µ ÀÇÇлçÀü ¸ÂÃã °Ë»ö °á°ú : 15 ÆäÀÌÁö: 15
Hurler syndrome <syndrome> A hereditary metabolic disorder, also designated mucopolysaccharidosis I, is caused by a recessive gene which results in a deficiency of the enzyme alpha-L-iduronidase, which breaks down dermatan sulphate and heparan sulphate, two types of mucopolysaccharides (complex carbohydrates). Consequently, the mucopolysaccharides accumulate in the cells of the body and cause damage.
It is characterised by coarse facies, corneal clouding, skeletal dysplasia, hepatosplenomegaly, hernias, mental retardation and early death.
There are mild and severe forms of the syndrome, the mild form is called Scheie Syndrome, the severe form is called Hurler syndrome, and children with an intermediate form have Hurler-Scheie syndrome. Patients with the severe form usually die from respiratory and cardiac failure before the age of ten. There is presently no cure.
Hurler syndrome is one of a number of related rare genetic mucopolysaccharide disorders, the most common being Hunter syndrome.
Diagnosis is possible by observing storage material in tissues, excretion of dermatan sulfate and heparan sulfate in urine, and deficient alpha-L-iduronidase activity in fibroblasts, amniocytes or other cell types.
Missense and other mutations, one of which is relatively common, have been identified in the gene.
Inheritance: autosomal recessive.
(29 Dec 1997)
Hurler's disease <syndrome> Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance.
See: mucolipidosis.
Synonym: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis.
(05 Mar 2000)
Hurler's syndrome <syndrome> Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance.
See: mucolipidosis.
Synonym: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis.
(05 Mar 2000)
Hurler-Scheie syndrome <syndrome> Although clinically distinct diseases, fibroblasts from patients with Hurler syndrome and with Scheie syndrome do not cross complement in culture, suggesting that the enzyme defect is the same.
(18 Nov 1997)
huron-iroquous <ethnology> A linguistic group of warlike North American Indians, belonging to the same stock as the Algonquins, and including several tribes, among which were the Five Nations. They formerly occupied the region about Lakes Erie and Ontario, and the larger part of new York.
Source: Websters Dictionary
(01 Mar 1998)
huronian <geology> Of or pertaining to certain non-fossiliferous rocks on the borders of Lake Huron, which are supposed to correspond in time to the latter part of the Archaean age.
Origin: Named from Lake Huron.
Source: Websters Dictionary
(01 Mar 1998)
hurons Sing. Huron.
<ethnology> A powerful and warlike tribe of North American Indians of the Algonquin stock. They formerly occupied the country between Lakes Huron, Erie, and Ontario, but were nearly exterminated by the Five Nations about 1650.
Source: Websters Dictionary
(01 Mar 1998)
hurricane A violent storm, characterised by extreme fury and sudden changes of the wind, and generally accompanied by rain, thunder, and lightning; especially prevalent in the East and West Indies. Also used figuratively. "Like the smoke in a hurricane whirl'd." (Tennyson) "Each guilty thought to me is A dreadful hurricane.
<zoology> " (Massinger) Hurricane bird See Deck.
Origin: Sp. Hurracan; orig. A Carib word signifying, a high wind.
Source: Websters Dictionary
(01 Mar 1998)
hurry The act of hurrying in motion or business; pressure; urgency; bustle; confusion. "Ambition raises a tumult in the soul, it inflames the mind, and puts into a violent hurry of thought." (Addison)
Synonym: Haste, speed, dispatch. See Haste.
Source: Websters Dictionary
(01 Mar 1998)
hurst A wood or grove; a word used in the composition of many names, as in Hazlehurst.
Origin: OE. Hurst, AS. Hyrst; akin to OHG. Hurst, horst, wood, thicket, G. Horst the nest of a bird of prey, an eyerie, thicket.
Source: Websters Dictionary
(01 Mar 1998)
Hurst bougies A series of mercury-filled tubes of graded diameter for dilating the cardioesophageal region.
(05 Mar 2000)
hurt 1. To cause physical pain to; to do bodily harm to; to wound or bruise painfully. "The hurt lion groans within his den." (Dryden)
2. To impar the value, usefulness, beauty, or pleasure of; to damage; to injure; to harm. "Virtue may be assailed, but never hurt." (Milton)
3. To wound the feelings of; to cause mental pain to; to offend in honor or self-respect; to annoy; to grieve. "I am angry and hurt."
Origin: OE. Hurten, hirten, horten, herten; prob. Fr. OF. Hurter, heurter, to knock, thrust, strike, F. Heurter; cf. W. Hyrddu to push, drive, assault, hwrdd a stroke, blow, push; also, a ram, the orig. Sense of the verb thus perhaps being, to butt as a ram; cf. D. Horten to push, strike, MHG. Hurten, both prob. Fr. Old French.
Source: Websters Dictionary
(01 Mar 1998)
hurter A butting piece; a strengthening piece, especially., A piece of wood at the lower end of a platform, designed to prevent the wheels of gun carriages from injuring the parapet.
Origin: F. Heurtoir, lit, a striker. See Hurt.
Source: Websters Dictionary
(01 Mar 1998)
Hurthle cell Askenazy cells
Hurthle cell adenoma <tumour> An uncommon type of thyroid tumour characterised by abundant eosinophilic cytoplasm containing numerous mitochondria. Often malignant with widespread metastases; rarely takes up radioiodine.
See: Hurthle cell tumour.
(05 Mar 2000)
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humerus the region of the exterior basal angle of the elytra; according to Meigen it is the anterior angles of the thorax in Diptera.
Ãâó: www.biology.lsu.edu/heydrjay/ThomasSay/terms.html
human immunodeficiency virus Retrovirus that is associated with the onset of AIDS.
Ãâó: science.education.nih.gov/supplements/nih1/disease...
Huntington's disease A genetic disorder of the nervous system, characterized by involuntary movements and progressive mental deterioration.
Ãâó: www.cnn.com/HEALTH/library/BN/00023.html
humoral immunity [Latin, umor= fluid] The production of antibodies.
Ãâó: embryology.med.unsw.edu.au/Notes/Index/H.htm
Huntington's chorea An autosomal dominant disease characterized by chronic progressive chorea and mental deterioration terminating in dementia; the age of onset is variable but usually in the fourth decade of life, with death within 15 years. [Dorland]
Ãâó: www.antiquusmorbus.com/English/EnglishH.htm
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