- fucosidosis
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A rare autosomal-recessive disorder in which the enzyme fucosidase is not properly used in the cells to break down fucose.
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fucosidosis
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fucosidosis — una enfermedad por depósito en los lisosomas en los que la carencia de a L fucosidasa (un enzima presente en los leucocitos y fobroblastos) ocasiona una acumulación de olisacáridos y glucolípidos en la orina, cerebro e hígado. La enfermedad cursa … Diccionario médico
fucosidosis — fucosidosis. См. фукозидоз. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
Fucosidosis — Infobox Disease Name = PAGENAME Caption = Fucose Width = 120 DiseasesDB = 29471 ICD10 = ICD10|E|77|1|e|70 ICD9 = ICD9|271.8 ICDO = OMIM = 230000 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D005645 Fucosidosis, also called alpha l… … Wikipedia
fucosidosis — A metabolic storage disease characterized by accumulation of fucose containing glycolipids and deficiency of the enzyme α fucosidase; progressive neurologic deterioration begins after the first year of life, accompanied by spasticity, tremor, and … Medical dictionary
фукозидоз — fucosidosis фукозидоз. Редкое НЗЧ, обусловленное дефицитом лизосомной α L фукозидазы [КФ 3.2.1.51], характеризуется прогрессирующими поражениями нервной системы, гепатоспленомегалией, задержкой роста и развития и др.; наследуется по аутосомно… … Молекулярная биология и генетика. Толковый словарь.
Fucosidose — Klassifikation nach ICD 10 E77.1 Defekte beim Glykoproteinabbau (inkl. Fucosidose) … Deutsch Wikipedia
Fucosidase — Fucosidase, alpha L 1, tissue, also known as FUCA1, is a human gene.cite web | title = Entrez Gene: FUCA1 fucosidase, alpha L 1, tissue| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=2517| accessdate = ]… … Wikipedia
List of diseases (F) — A list of diseases in the English wikipedia.DiseasesTOC FaFab* Fabry s diseaseFacFace Faci* Faces syndrome * Facial asymmetry temporal seizures * Facial clefting corpus callosum agenesis * Facial dysmorphism macrocephaly myopia Dandy Walker type… … Wikipedia
Sialidosis — Classification and external resources Sialic acid ICD 10 E77.1 OMIM … Wikipedia
Coarse facial features — refer to a similar change in facial features in the advanced stage of certain conditions like Cretinism, Mucopolysaccharidoses etc, where affected individuals look remarkably similar due to the coarsening of their facial features. These typical… … Wikipedia
