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fucosidosis - type of lysosomal storage disorder Definition for fucosidosis Fucosidosis is an autosomal recessive disease in which fucosidase is not properly used in the cells to break fucose. more Fucosidosis is an autosomal recessive disease in which fucosidase is not properly used in the cells to break fucose. There are at least two types of fucosidosis. In type 1, patients have no vascular lesions, but have rapid psychomotor regression, severe and rapidly progressing neurologic signs, elevated sodium and chloride excretion in the sweat, and fatal outcome before the sixth year. In type 2, patients have angiokeratoma, milder psychomotor retardation and neurologic signs, longer survival, and normal salinity in the sweat. less some common symptoms delayed development face deformities lumps or swelling in multiple areas not gaining weight some related diagnoses 1 - 7 of 19 diagnoses fetal alcohol syndrome common variable immunodeficiency Hartnup disease neurofibromatosis type 1 human immunodeficiency virus infections malnutrition hydrocephalus   more do i have 'fucosidosis'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'fucosidosis' 1 - 5 of 11 diagnostic tests a-fucosidase in cultured fibroblasts fucosidosis and a-fucosidase in cultured fibroblasts a-fucosidase in white blood cells fucosidosis and a-fucosidase in white blood cells Brain MRI fucosidosis and Brain MRI Magnetic Resonance Imaging (MRI) Liver fucosidosis and Magnetic Resonance Imaging (MRI) Liver Molecular Genetic Studies fucosidosis and Molecular Genetic Studies ECHOcardiogram fucosidosis and ECHOcardiogram Lysosomal enzymes fucosidosis and Lysosomal enzymes X-rays fucosidosis and X-rays cultured skin fibroblasts for biochemical study fucosidosis and cultured skin fibroblasts for biochemical study direct enzymatic assay in fibroblasts fucosidosis and direct enzymatic assay in fibroblasts direct enzymatic assay in white blood cells fucosidosis and direct enzymatic assay in white blood cells for more please login, login is free (click to login) therapeutic procedures for 'fucosidosis'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for fucosidosis: therapeutic procedure search results for 'fucosidosis' 1 - 2 of 2 therapeutic procedures rankings are computer generated. please consult your health care provider. Hematopoietic stem cell transplantation fucosidosis and Hematopoietic stem cell transplantation Histocompatibility testing fucosidosis and Histocompatibility testing medications search results for 'fucosidosis' rankings are computer generated. please consult your health care provider. web search results for fucosidosis Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - fucosidosis Fucosidosis - Wikipedia, the free encyclopedia Two patients with an unusual form of type II fucosidosis" ... Aspartylglucosaminuria - Fucosidosis - mannosidosis (Alpha-mannosidosis, Beta ... http://en.wikipedia.org/wiki/Fucosidosis   en.wikipedia.org - summary Fucosidosis - Genetics Home Reference Fucosidosis is a condition that affects many areas of the body, especially the brain. ... cells is thought to cause the neurological symptoms of fucosidosis. ... http://ghr.nlm.nih.gov/condition=fucosidosis   ghr.nlm.nih.gov - summary Spectrum of mutations in fucosidosis. Fucosidosis is a lysosomal storage disorder characterised by progressive ... We present here a review study of the mutational spectrum of fucosidosis. ... http://www.ncbi.nlm.nih.gov/pubmed/10094192   www.ncbi.nlm.nih.gov - summary Anesthesia for fucosidosis. Fucosidosis is an extremely rare, autosomal recessive lysosomal storage disease, ... Features of fucosidosis are discussed. Publication Types: Case Reports ... http://www.ncbi.nlm.nih.gov/pubmed/17767638   www.ncbi.nlm.nih.gov - summary Fucosidosis - Patient support - For patients and families - Genetics ... Genetic Conditions > fucosidosis > Patient support - For patients and families ... the information in the Genetics Home Reference condition summary on fucosidosis. ... http://ghr.nlm.nih.gov/condition=fucosidosis/show/Patient+support   ghr.nlm.nih.gov - summary Fucosidosis revisited: a review of 77 patients. Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder caused by ... Seventy-seven patients affected with fucosidosis of which 19 had not been ... http://www.ncbi.nlm.nih.gov/pubmed/2012122   www.ncbi.nlm.nih.gov - summary Fucosidosis - References - Genetics Home Reference ... A, Higgins C, Ellis I, Wraith J. Fucosidosis: a therapeutic challenge. Pediatr Dermatol. ... Phenotypic spectrum of fucosidosis in Tunisia. J Inherit Metab Dis. ... http://ghr.nlm.nih.gov/condition=fucosidosis/show/References   ghr.nlm.nih.gov - summary A 5' splice site mutation in fucosidosis. Fucosidosis is a rare, autosomal recessive, lysosomal storage disease, resulting ... was not detected in 26 other fucosidosis patients and has not been found ... http://www.ncbi.nlm.nih.gov/pubmed/8097260   www.ncbi.nlm.nih.gov - summary Fucosidosis - Related Gene(s) - Genetics Home Reference Genetic Conditions > fucosidosis > Related Gene(s) FUCA1: fucosidase, alpha-L- 1, tissue ... Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/condition=fucosidosis/show/Related+Gene(s)   ghr.nlm.nih.gov - summary Fucosidosis type 2. 1: Pediatrics. 1976 Feb;57(2):205-13. Fucosidosis type 2. ... It appears that genetic heterogeneity is present in fucosidosis; there are at least two types. ... http://www.ncbi.nlm.nih.gov/pubmed/814528   www.ncbi.nlm.nih.gov - summary Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis ... Fucosidosis is an autosomal recessive lysosomal storage disease resulting from ... Direct DNA sequencing demonstrated three mutations in the fucosidosis family. ... http://www.ncbi.nlm.nih.gov/pubmed/8399358   www.ncbi.nlm.nih.gov - summary FUCOSIDOSIS - Pedbase.org http://www.pedbase.org/f/fucosidosis   www.pedbase.org - summary Fucosidosis - Educational resources - Information pages - Genetics Home ... Genetic Conditions > fucosidosis > Educational resources - Information pages ... the information in the Genetics Home Reference condition summary on fucosidosis. ... http://ghr.nlm.nih.gov/condition=fucosidosis/show/Educational+resources   ghr.nlm.nih.gov - summary Molecular defect in processing alpha-fucosidase in fucosidosis. Molecular defect in processing alpha-fucosidase in fucosidosis. Johnson K, Dawson G. ... less than 5% of normal alpha-L-fucosidase activity (fucosidosis) showed 8 of ... http://www.ncbi.nlm.nih.gov/pubmed/4074382   www.ncbi.nlm.nih.gov - summary Fucosidosis - MedlinePlus - Health information - Genetics Home Reference Genetic Conditions > fucosidosis > MedlinePlus - Health information ... the information in the Genetics Home Reference condition summary on fucosidosis. ... http://ghr.nlm.nih.gov/condition=fucosidosis/show/MedlinePlus   ghr.nlm.nih.gov - summary Two patients with an unusual form of type II fucosidosis. 1: Clin Genet. 1980 Nov;18(5):348-54. Two patients with an unusual form of type II fucosidosis. ... regarding clinical subtypes of fucosidosis can be drawn ... http://www.ncbi.nlm.nih.gov/pubmed/7460371   www.ncbi.nlm.nih.gov - summary FUCA1 - NextBio FUCA1: Fucosidosis is an autosomal recessive lysosomal storage disease caused by ... Fucosidosis. Lithium. Osteoclast. Hodgkin disease, nodular ... U2AF2 gene. Ileum ... http://www.nextbio.com/b/home/home.nb?q=FUCA1   www.nextbio.com - summary Fucosidosis: four new mutations and a new polymorphism. Fucosidosis is a rare lysosomal storage disease due to a nearly complete ... Five patient groups with fucosidosis were selected according to their ethnic ... http://www.ncbi.nlm.nih.gov/pubmed/8504303   www.ncbi.nlm.nih.gov - summary The molecular defect underlying canine fucosidosis. ... Genet. 1996 Apr;33(4):284-8. The molecular defect underlying canine fucosidosis. ... Fucosidosis is a lysosomal storage disease which affects humans and English ... http://www.ncbi.nlm.nih.gov/pubmed/8730282   www.ncbi.nlm.nih.gov - summary Fucosidosis: genetic and biochemical analysis of eight cases. ... as suffering from the autosomal recessive lysosomal storage disease fucosidosis. ... affected patients confirms the genetic heterogeneity in fucosidosis. ... http://www.ncbi.nlm.nih.gov/pubmed/9039984   www.ncbi.nlm.nih.gov - summary Fucosidosis - Yahoo! Health Important It is possible that the main title of the report Fucosidosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) ... http://health.yahoo.com/children-resources/fucosidosis/healthwise--nord1095.html   health.yahoo.com - summary WebMD Health A-Z - Find reliable health and medical information on ... Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Fucosidosis. Fukuhara Syndrome. Fukuyama ... http://www.webmd.com/a-to-z-guides/health-topics/fu-fz.htm   www.webmd.com - summary Characterization of EcoRI mutation in fucosidosis patients: a stop ... Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the ... Recently, a subset of fucosidosis patients was identified in which the single ... http://www.ncbi.nlm.nih.gov/pubmed/2642067   www.ncbi.nlm.nih.gov - summary A fucosidosis patient with relative longevity and a missense mutation ... A fucosidosis patient with relative longevity and a missense mutation in exon 7 ... Fleming CJ, Sinclair DU, White EJ, Winchester B, Whiteford ML, Connor JM. ... http://www.ncbi.nlm.nih.gov/pubmed/9762612   www.ncbi.nlm.nih.gov - summary Orphanet: Fucosidosis The portal for rare diseases and orphan drugs ... Fucosidosis is a very rare lysosomal storage disorder belonging to the group of ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=349   www.orpha.net - summary 2008 MeSH Tree Structures. C18 - Nutritional and Metabolic Diseases Fucosidosis [C18.452.132.100.435.295] Glycogen Storage Disease Type II [C18.452.132. ... Fucosidosis [C18.452.648.202.303] Galactosemias [C18.452.648.202.355] ... http://www.nlm.nih.gov/mesh/trees2008/C18.html   www.nlm.nih.gov - summary Encyclopedia F-Fz on Yahoo! Health Health encyclopedia of diseases and conditions covering symptoms, definitions, ... Fucosidosis. Fukuyama Type Congenital Muscular Dystrophy. Fulvestrant ... http://health.yahoo.com/ency/f/   health.yahoo.com - summary Talk:Fucosidosis - Wikipedia, the free encyclopedia Talk:Fucosidosis. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... Retrieved from "http://en.wikipedia.org/wiki/Talk:Fucosidosis" ... http://en.wikipedia.org/wiki/Talk:Fucosidosis   en.wikipedia.org - summary FUCA1 - fucosidase, alpha-L- 1, tissue - Genetics Home Reference At least 26 mutations in the FUCA1 gene have been found to cause fucosidosis. ... Loss of brain cells is thought to cause the neurological symptoms of fucosidosis. ... http://ghr.nlm.nih.gov/gene=fuca1   ghr.nlm.nih.gov - summary Brain and nervous system - Genetics Home Reference Alpha-fucosidase deficiency see fucosidosis. Alpha-galactosidase A deficiency see Fabry disease ... see fucosidosis. fucosidosis. Fukuyama congenital ... http://www.ghr.nlm.nih.gov/conditionCategory=brainandnervoussystem   www.ghr.nlm.nih.gov - summary FUCA1 - References - Genetics Home Reference Fucosidosis revisited: a review of 77 patients. Am J Med Genet. 1991 Jan; ... Spectrum of mutations in fucosidosis. Eur J Hum Genet. 1999 Jan;7(1):60-7. Review. ... http://ghr.nlm.nih.gov/gene=fuca1/show/References   ghr.nlm.nih.gov - summary Short neck - NextBio hide studies that are not seeking new volunteers. individual study results ... endoleak femoral neck Fucosidosis GTP helix Hemifacial spasm herniations Hunter ... http://www.nextbio.com/b/home/home.nb?q=short+neck   www.nextbio.com - summary Food, nutrition, and metabolism - Genetics Home Reference Alpha-fucosidase deficiency see fucosidosis. Alpha-galactosidase A deficiency see Fabry disease ... see fucosidosis. fucosidosis. fumarase deficiency ... http://ghr.nlm.nih.gov/conditionCategory=foodnutritionandmetabolism   ghr.nlm.nih.gov - summary Skin, hair, and nails - Genetics Home Reference Alpha-fucosidase deficiency see fucosidosis. Alström syndrome. androgenetic alopecia ... Fucosidase deficiency see fucosidosis. fucosidosis ... http://ghr.nlm.nih.gov/conditionCategory=skinhairandnails   ghr.nlm.nih.gov - summary Characterization of alpha-L-fucosidase from two different families with ... ... L-fucosidase from two different families with fucosidosis. ... in leucocytes of two patients with fucosidosis type I was about 4 to 8% of the normal value. ... http://www.ncbi.nlm.nih.gov/pubmed/00011911   www.ncbi.nlm.nih.gov - summary A missense mutation (S63L) in alpha-L-fucosidase is responsible for ... ... (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient. ... Fucosidosis/genetics* Humans. Infant. Italy. Molecular Sequence Data ... http://www.ncbi.nlm.nih.gov/pubmed/7874128   www.ncbi.nlm.nih.gov - summary FUCA1 - Related Condition(s) - Genetics Home Reference Related Condition(s) fucosidosis. Reviewed: December 2008. Published: January 30, 2009. Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/gene=fuca1/show/Related+Condition(s)   ghr.nlm.nih.gov - summary AceView: gene:FUCA1, a comprehensive annotation of human, mouse and ... AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and ... [FUCA1] Fucosidosis is an autosomal ... http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&l=FUCA1   www.ncbi.nlm.nih.gov - summary Crystal structure of Thermotoga maritima alpha-L-fucosidase. Insights ... Insights into the catalytic mechanism and the molecular basis for fucosidosis. ... alpha-l-fucosidase activity is associated with fucosidosis, a lysosomal storage ... http://www.ncbi.nlm.nih.gov/pubmed/14715651   www.ncbi.nlm.nih.gov - summary Chromosome 1 - Conditions related to genes on chromosome 1 - Genetics ... fucosidosis. fumarase deficiency. galactosemia. Gaucher disease. GLUT1 deficiency syndrome ... hereditary leiomyomatosis and renal cell cancer. homocystinuria ... http://ghr.nlm.nih.gov/chromosome=1/show/Conditions   ghr.nlm.nih.gov - summary 230000 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230000   www.ncbi.nlm.nih.gov - summary Beta-mannosidosis - Genetics Home Reference Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of ... Degradation: ?-Mannosidosis, ?-Mannosidosis, Fucosidosis, and Sialidosis ... http://ghr.nlm.nih.gov/condition=betamannosidosis   ghr.nlm.nih.gov - summary Genetic Brain Disorders - Genetics Home Reference fucosidosis. galactosemia. Gaucher disease. GLUT1 deficiency syndrome. glutaric acidemia type I ... mitochondrial encephalomyopathy, lactic acidosis, and ... http://ghr.nlm.nih.gov/conditionGroup=geneticbraindisorders   ghr.nlm.nih.gov - summary Fucosidase - Wikipedia, the free encyclopedia Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the ... Molecular biology of the alpha-L-fucosidase gene and fucosidosis. ... http://en.wikipedia.org/wiki/Fucosidase   en.wikipedia.org - summary Seizures - Genetics Home Reference Related topics on Genetics Home Reference: aspartylglucosaminuria. fucosidosis. pyridoxal 5'-phosphate-dependent epilepsy. pyridoxine-dependent epilepsy ... http://ghr.nlm.nih.gov/conditionGroup=seizures   ghr.nlm.nih.gov - summary Molecular cloning of a cDNA for human alpha-L-fucosidase. ... the human autosomal recessive disease fucosidosis. ... Fucosidosis/genetics. Humans. Liver Neoplasms. RNA, Messenger/genetics. alpha-L-Fucosidase/genetics ... http://www.ncbi.nlm.nih.gov/pubmed/2983333   www.ncbi.nlm.nih.gov - summary Children's Health: Other Resources - Yahoo! Health Find information on children's health including immunizations, behavior & development, injuries & safety, ... 06, Healthwise. 0. Fucosidosis. Article. 08/08 ... http://health.yahoo.com/children-resources/   health.yahoo.com - summary Glycoproteinosis - Wikipedia, the free encyclopedia Fucosidosis. Mannosidosis. Sialidosis (mucolipidosis I) ... Aspartylglucosaminuria - Fucosidosis - mannosidosis (Alpha-mannosidosis, Beta ... http://en.wikipedia.org/wiki/Glycoproteinosis   en.wikipedia.org - summary Brain Diseases - Genetics Home Reference cerebral autosomal dominant arteriopathy with subcortical infarcts ... fucosidosis. galactosemia. galactosialidosis. Gaucher disease. GLUT1 deficiency syndrome ... http://ghr.nlm.nih.gov/conditionGroup=braindiseases   ghr.nlm.nih.gov - summary Metabolic Disorders - Genetics Home Reference 2-methylbutyryl-coenzyme A dehydrogenase deficiency. 3-hydroxy-3-methylglutaryl-coenzyme A ... fucosidosis. fumarase deficiency. galactosemia. Gaucher disease ... http://ghr.nlm.nih.gov/conditionGroup=metabolicdisorders   ghr.nlm.nih.gov - summary show more 1  2