Biochemical and molecular studies of 132 patients with galactosemia
dc.contributor.author | Kaufman, Francine R. | en_US |
dc.contributor.author | Wolff, Jon A. | en_US |
dc.contributor.author | Donnell, George N. | en_US |
dc.contributor.author | Allen, Richard J. | en_US |
dc.contributor.author | Koritala, Sriveda | en_US |
dc.contributor.author | Reichardt, Juergen K. V. | en_US |
dc.contributor.author | Xu, Yan-Kang | en_US |
dc.contributor.author | Ng, Won G. | en_US |
dc.date.accessioned | 2006-09-11T19:13:09Z | |
dc.date.available | 2006-09-11T19:13:09Z | |
dc.date.issued | 1994-10 | en_US |
dc.identifier.citation | Ng, Won G.; Xu, Yan-Kang; Kaufman, Francine R.; Donnell, George N.; Wolff, Jon; Allen, Richard J.; Koritala, Sriveda; Reichardt, Juergen K. V.; (1994). "Biochemical and molecular studies of 132 patients with galactosemia." Human Genetics 94(4): 359-363. <http://hdl.handle.net/2027.42/47637> | en_US |
dc.identifier.issn | 0340-6717 | en_US |
dc.identifier.issn | 1432-1203 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/47637 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=7927329&dopt=citation | en_US |
dc.description.abstract | We evaluated 132 galactosemia patients for the Q188R (glutamine-188 to arginine) mutation in the human galactose-1-phosphate uridyltransferase (GALT) gene and for GALT activity in their hemolysates by a sensitive radioisotopic method. In those without any detectable GALT activity (GG), the Q188R mutation constituted 67% of the alleles. In patients with detectable GALT activity (GV), only 16% of the alleles were accounted for by Q188R. In all patients who were homozygous for the Q188R mutation, no erythrocyte GALT activity could be demonstrated. There was an extensive variation in the amount of detectable GALT activity ranging from 0.1% to 5% of the normal values among the GV patients. There was a difference in the frequency of Q188R mutation in the GALT alleles among patients belonging to different racial and ethnic groups. In Caucasian and Hispanic patients, the frequency was not far different (64% and 58%, respectively). On the other hand, only 12% of the GALT alleles with Q188R were found in African-American patients. | en_US |
dc.format.extent | 458117 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Springer-Verlag | en_US |
dc.subject.other | Molecular Medicine | en_US |
dc.subject.other | Human Genetics | en_US |
dc.subject.other | Biomedicine | en_US |
dc.subject.other | Metabolic Diseases | en_US |
dc.subject.other | Internal Medicine | en_US |
dc.title | Biochemical and molecular studies of 132 patients with galactosemia | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbsecondlevel | Biological Chemistry | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Pediatric Neurology Section, Department of Pediatrics and Neurology, University of Michigan Medical Center, 48 109, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationother | Childrens Hospital Los Angeles and Department of Pediatrics, University of Southern California School of Medicine, 90027, Los Angeles, CA, USA | en_US |
dc.contributor.affiliationother | Waisman Center, Department of Pediatrics, University of Wisconsin, 53706, Madison, WI, USA | en_US |
dc.contributor.affiliationother | Childrens Hospital Los Angeles and Department of Pediatrics, University of Southern California School of Medicine, 90027, Los Angeles, CA, USA | en_US |
dc.contributor.affiliationother | Childrens Hospital Los Angeles and Department of Pediatrics, University of Southern California School of Medicine, 90027, Los Angeles, CA, USA | en_US |
dc.contributor.affiliationother | Department of Biochemistry and Molecular Biology, University of Southern California School of Medicine, 90033, Los Angeles, CA, USA; Institute for Genetic Medicine, University of Southern California School of Medicine, 90033, Los Angeles, CA, USA | en_US |
dc.contributor.affiliationother | Department of Biochemistry and Molecular Biology, University of Southern California School of Medicine, 90033, Los Angeles, CA, USA | en_US |
dc.contributor.affiliationother | Childrens Hospital Los Angeles and Department of Pediatrics, University of Southern California School of Medicine, 90027, Los Angeles, CA, USA | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 7927329 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/47637/1/439_2004_Article_BF00201593.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF00201593 | en_US |
dc.identifier.source | Human Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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