Zobrazeno 1 - 10
of 25
pro vyhledávání: '"GalT activity"'
Autor:
Carolina Crespo, Hernán Eiroa, María Inés Otegui, Mara Cecilia Bonetto, Lilien Chertkoff, Luis Pablo Gravina
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100695- (2020)
Background: Classical galactosemia is an autosomal recessive inherited metabolic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. GALT enzyme deficiency leads to the accumulation of galactose-1-phosphate in var
Externí odkaz:
https://doaj.org/article/068457ff54c743868ab8415cdf1925cf
Autor:
Kent Lai, Marzia Pasquali, Irene De Biase, Rong Mao, Tatiana Yuzyuk, Elizabeth L. Schwarz, Judith A. Hobert, Nicola Longo, Bijina Balakrishnan
Publikováno v:
Molecular Genetics and Metabolism. 125:258-265
Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes classic galactosemia (OMIM 230400 ), characterized by the accumulation of galactose-1-phosphate (GAL1P) in patients' red blood cells (RBCs). Our recent study demonstrated a co
Publikováno v:
Journal of Personalized Medicine
Journal of Personalized Medicine, Vol 11, Iss 75, p 75 (2021)
Journal of Personalized Medicine, Vol 11, Iss 75, p 75 (2021)
Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a galactose-restricted diet, is effective in treating neonatal comp
Autor:
María Inés Otegui, Lilien Chertkoff, Luis Pablo Gravina, Carolina Crespo, Mara Cecilia Bonetto, Hernán Eiroa
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100695-(2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Background Classical galactosemia is an autosomal recessive inherited metabolic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. GALT enzyme deficiency leads to the accumulation of galactose-1-phosphate in vari
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 505
Background The objective of the study was to investigate the effectiveness of screening for hereditary galactosaemia with Benedict’s test and thin layer chromatography (TLC) in a tertiary laboratory from a developing country. Methods We retrospecti
Autor:
John Chiang, Nicholas K. Wang
Publikováno v:
Genetics in Medicine
Akademický článek
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Publikováno v:
Clinica Chimica Acta. 446:171-174
Classic galactosemia (CG) is a potentially lethal genetic disorder that results from profound loss of galactose-1-phosphate uridylyltransferase (GALT). CG is detected by newborn screening (NBS) in many countries; however, conclusive diagnosis can be
Autor:
Hans C. Andersson, Grace Stuhrman, Eva Morava, Kea Crivelly, Jennifer Smith, Stefanie J. Perez Juanazo
Publikováno v:
JIMD Reports ISBN: 9783662561379
Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G
Publikováno v:
JIMD Reports ISBN: 9783662550113
Classic galactosemia (CG) is an autosomal recessive disorder of galactose metabolism that affects approximately 1/50,000 live births in the USA. Following exposure to milk, which contains large quantities of galactose, affected infants may become ser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cdbaee2d31d1682829f6d1f6e860cbb
https://europepmc.org/articles/PMC5413454/
https://europepmc.org/articles/PMC5413454/