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250 Possible Causes for Neuraminidase Deficiency

  • Mucolipidosis Type 1

    […] ophthalmologic findings of two siblings with neuraminidase deficiency (sialidosis) are presented.[scholars.northwestern.edu] deficiency ( sialidosis ) are presented.[journals.lww.com] Abstract The inherited human disorders sialidosis and galactosialidosis are the result of deficiencies of glycoprotein-specific alpha-neuraminidase (acylneuraminyl hydrolase[pnas.org]

  • Galactosialidosis

    Sialidosis —An inherited disorder known as neuraminidase deficiency.[encyclopedia.com] Abstract Three male siblings in a Japanese family were affected with beta-galactosidase-neuraminidase deficiency (galactosialidosis).[ncbi.nlm.nih.gov] Abstract The inherited human disorders sialidosis and galactosialidosis are the result of deficiencies of glycoprotein-specific alpha-neuraminidase (acylneuraminyl hydrolase[ncbi.nlm.nih.gov]

  • Influenza

    Hemagglutinin specificity and neuraminidase coding capacity of neuraminidase-deficient influenza viruses. Virology 229, 155–165 (1997). 9. Matrosovich, M.[nature.com] Smith BJ, Huyton T, Joosten RP, McKimm-Breschkin JL, Zhang JG, et al. (2006) Structure of a calcium-deficient form of influenza virus neuraminidase: implications for substrate[doi.org] Neuraminidase is important for the initiation of influenza virus infection in human airway epithelium. Journal of virology 78, 12665–12667 (2004). 10. Webster, R.[nature.com]

  • Mucolipidosis

    Because of the neuraminidase deficiency, ML I is now categorized with the sialidoses, a group of biochemically distinct disease entities due to an isolated neuraminidase deficiency[emedicine.medscape.com] Neuraminidase deficiency: case report and review of the phenotype. J Med Genet . 1987 May. 24(5):283-90. [Medline] .[emedicine.medscape.com] Neuraminidase Deficiency Clinical Characteristics Ocular Features: A cherry red spot is may be seen in late childhood or early adolescence.[disorders.eyes.arizona.edu]

  • Nivelon-Nivelon-Mabille Syndrome

    […] beta-galactosidase deficiency Neuraminidase deficiency Neurasthenia Neurilemmomatosis Neuritis with brachial predilection Neuroacanthocytosis Neuroaxonal dystrophy renal[fact-index.com] […] beta-galactosidase deficiency Neuraminidase deficiency Neurasthenia Neurilemmomatosis Neuritis with brachial predilection Neuro Neuroa-Neurog Neuroacanthocytosis Neuroaxonal[wikidoc.org] Neu Laxova syndrome Neuhauser Daly Magnelli syndrome Neuhauser Eichner Opitz syndrome Neural crest tumor Neural tube defect, folate-sensitive Neural tube defects X linked Neuraminidase[fact-index.com]

  • Progressive Myoclonic Epilepsy Type 3

    Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult.[link.springer.com] Sialidosis: a review of human neuraminidase deficiency. Am J Hum Genet 1979; 31 (1) 1-18 31 Canafoglia L, Franceschetti S, Uziel G, et al.[thieme-connect.com] .  Sialidoses type I (cherry-red spot myoclonus syndrome) - caused by deficiency of neuraminidase.  Juvenile or adult onset  produces a pure intention and action myoclonus[slideshare.net]

  • Progressive Myoclonic Epilepsy Type 7

    .: The cherry red spot-myoclonus syndrome: A newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency. Clin.[link.springer.com] .  Sialidoses type I (cherry-red spot myoclonus syndrome) - caused by deficiency of neuraminidase.  Juvenile or adult onset  produces a pure intention and action myoclonus[slideshare.net] Type I sialidosis [ edit ] This is an autosomal recessive disorder in which the body is deficient in α- neuraminidase .[en.wikipedia.org]

  • Uremic Pneumonitis

    Detachment of endothelium and epithelium from the glomerular basement membrane produced by kidney perfusion with neuraminidase. Lab Invest 1980 ; 42 : 375 -384.[clinchem.aaccjnls.org] Investigation by isoelectric focusing of the initial carbohydrate-deficient transferrin (CDT) and non-CDT transferrin isoform fractionation step involved in determination[clinchem.aaccjnls.org]

  • Progressive Myoclonic Epilepsy Type 8

    Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult.[link.springer.com] Type I sialidosis [ edit ] This is an autosomal recessive disorder in which the body is deficient in α- neuraminidase.[en.wikipedia.org] .  Sialidoses type I (cherry-red spot myoclonus syndrome) - caused by deficiency of neuraminidase.  Juvenile or adult onset  produces a pure intention and action myoclonus[slideshare.net]

  • Mucolipidosis Type 4

    Title Other Names: ML 4; Berman syndrome; Ganglioside neuraminidase deficiency; ML 4; Berman syndrome; Ganglioside neuraminidase deficiency; Ganglioside sialidase deficiency[rarediseases.info.nih.gov] Because of the neuraminidase deficiency, ML I is now categorized with the sialidoses, a group of biochemically distinct disease entities due to an isolated neuraminidase deficiency[emedicine.medscape.com] Neuraminidase deficiency: case report and review of the phenotype. J Med Genet . 1987 May. 24(5):283-90. [Medline] .[emedicine.medscape.com]

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