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Mannosidosis: two brothers with different degrees of disease severity
dc.contributor.authorMitchell, Mark L.en_US
dc.contributor.authorErickson, Robert P.en_US
dc.contributor.authorSchmid, Douglasen_US
dc.contributor.authorHieber, Virginia C.en_US
dc.contributor.authorPoznanski, Andrew K.en_US
dc.contributor.authorHicks, Samuel P.en_US
dc.date.accessioned2010-04-01T15:26:48Z
dc.date.available2010-04-01T15:26:48Z
dc.date.issued1981-09en_US
dc.identifier.citationMitchell, Mark L.; Erickson, Robert P.; Schmid, Douglas; Hieber, Virginia; Poznanski, Andrew K.; Hicks, Samuel P. (1981). "Mannosidosis: two brothers with different degrees of disease severity." Clinical Genetics 20(3): 191-202. <http://hdl.handle.net/2027.42/65926>en_US
dc.identifier.issn0009-9163en_US
dc.identifier.issn1399-0004en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/65926
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=7307317&dopt=citationen_US
dc.format.extent972939 bytes
dc.format.extent3110 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.publisherBlackwell Publishing Ltden_US
dc.rights1981 Blackwell Munksgaarden_US
dc.subject.otherGenetic Variabilityen_US
dc.subject.otherLysosomal Storage Diseasesen_US
dc.subject.otherMannosidosisen_US
dc.titleMannosidosis: two brothers with different degrees of disease severityen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartments of Human Genetics, University of Michigan School of Medicine, Ann Arbor, Michigan, U.S.Aen_US
dc.contributor.affiliationumPediatrics and Communicable Diseases, University of Michigan School of Medicine, Ann Arbor, Michigan, U.S.Aen_US
dc.contributor.affiliationumPathology, University of Michigan School of Medicine, Ann Arbor, Michigan, U.S.Aen_US
dc.contributor.affiliationumRadiology, University of Michigan School of Medicine, Ann Arbor, Michigan, U.S.Aen_US
dc.identifier.pmid7307317en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/65926/1/j.1399-0004.1981.tb01829.x.pdf
dc.identifier.doi10.1111/j.1399-0004.1981.tb01829.xen_US
dc.identifier.sourceClinical Geneticsen_US
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dc.identifier.citedreferenceDesnick, R. J., H. L. Sharp, G. A. Grabowski, R. D. Brunning, P. G. Quie, J. H. Sung, R. J. Gorlin & J. U. Ikonne ( 1976 ). Mannosidosis: Clinical, morphologic, immunologic and biochemical studies. Pediat. Res. 10, 985.en_US
dc.identifier.citedreferenceDickersin, G. R., I. T. Lott, E. H. Kolodny & A. M. Dvorak ( 1980 ). A light and electron microscopic study of mannosidosis. Hum. Pathol. 11, 245.en_US
dc.identifier.citedreferenceFluharty, L., M. L. Scott, M. T. Porter, H. Kihara, M. G. Wilson & J. W. Towner ( 1973 ). Acid Α-glucosidase in amniotic fluid. Biochem. Med. 7, 39.en_US
dc.identifier.citedreferenceGrabowski, G. A., L. L. Walling, J. U. Ikonne, L. S. Wolfe & R. J. Desnick ( 1977 ). Enzyme manipulation: Evaluation of oral ZnSO 4 supplementation in mannosidosis Type II. Pediat. Res. 11, 456A.en_US
dc.identifier.citedreferenceHieber, V., J. Distler, R. Myerowitz, R. D. Schmickel & G. W. Jourdian ( 1980 ). Selective, noncompetitive assimilation of bovine testicular Β-galactosidase and bovine liver Β-glucuronidase by generalized gangliosidosis fibroblasts. J. clin. Invest. 65, 879.en_US
dc.identifier.citedreferenceKistler, J. P., I. T. Lott, E. H. Kolodny, R. B. Friedman, R. Nerasian, J. Schnur, M. C. Mihm, A. M. Dvorak & R. Dickersin ( 1977 ). Mannosidosis. Arch. Neurol. 34, 45.en_US
dc.identifier.citedreferenceKjellman, B., I. Gamstorp, A. Brun, P. A. Öckerman & B. Palgren ( 1969 ). Mannosidosis: a clinical and histopathologic study. J. Pediat. 75, 366.en_US
dc.identifier.citedreferenceLetson, R. D. & R. J. Desnick ( 1978 ). Punctate lenticular opacities in type II mannosidosis. Amer. J. Ophthalmol. 85, 218.en_US
dc.identifier.citedreferenceLowry, O. H., N. J. Rosebrough, A. L. Farr & R. J. Randall ( 1951 ). Protein measurement with the Folin reagent. J. biol. Chem. 193, 265.en_US
dc.identifier.citedreferenceÖckerman, P. A. ( 1967 ). A generalized storage disorder resembling Hurlers syndrome. Lancet ii, 239.en_US
dc.identifier.citedreferenceSpranger, J., J. Gehler & M. Cantz ( 1976 ). The radiographic features of mannosidosis. Radiology 119, 401.en_US
dc.identifier.citedreferenceThomas, G. H., H. A. Taylor, L. W. Reynolds & C. S. Miller ( 1973 ). Mucolipidosis II (pseudo-Hurler polydystrophy): Multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells. Pediat Res. 7, 751.en_US
dc.identifier.citedreferenceVidgoff, J., E. W. Lovrien, R. K. Beals & N. R. M. Buist ( 1977 ). Mannosidosis in three brothers - a review of the literature. Medicine 56, 335.en_US
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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