Search Results - "Leslie, ND"

Insights into the pathogenesis of galactosemia by Leslie, Nancy D

“…In humans, the absence of galactose-1-phosphate uridyltransferase (GALT) leads to significant neonatal morbidity and mortality which are dependent on galactose…”
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Bilateral Cataracts in a 6-year-old with New Onset Diabetes: A novel presentation of a known INS gene mutation by Wasserman, H, Hufnagel, RB, Miraldi, Utz V, Zhang, K, Valencia, CA, Leslie, ND, Crimmins, NA

“…The prevalence of diabetes-related cataracts during childhood is less than 1%. When cataracts occur, it is often in adolescent females with prolonged symptoms…”
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An Updated Review of the Long-Term Neurological Effects of Galactosemia by Ridel, Keith R., Leslie, Nancy D., Gilbert, Donald L.

“…Classical galactosemia is an autosomal recessive condition in which there is near total absence of the activity of galactose-1-phosphate uridyltransferase…”
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Knowledge and educational needs of individuals with the factor V Leiden mutation by Hellmann, E. A., Leslie, N. D., Moll, S.

“…Background: Genetic testing for factor (F)V Leiden is widely performed in an effort to prevent thrombosis‐related morbidity. The implications of a positive…”
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Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome by Cragun, Deborah L., Trumpy, Sharon K., Shackleton, Cedric H.L., Kelley, Richard I., Leslie, Nancy D., Mulrooney, Neil P., Hopkin, Robert J.

“…Antley–Bixler syndrome (ABS) is a rare condition characterized by radiohumeral synostosis, craniosynostosis, midface hypoplasia, bowing of the femora, multiple…”
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Functional Analysis of the Mouse Galactose-1-Phosphate Uridyl Transferase (GALT) Promoter by Leslie, Nancy D., Bai, Shuzhen

“…Galactose-1-phosphate uridyltransferase (GALT) is expressed in most tissues, but the near total absence of catalytic activity in humans with the disease…”
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The human galactose-1-phosphate uridyltransferase gene by Leslie, N D, Immerman, E B, Flach, J E, Florez, M, Fridovich-Keil, J L, Elsas, L J

“…Classical galactosemia is an inborn error of metabolism caused by a deficiency of galactose-1-phosphate uridyltransferase (GALT). Standard treatment with…”
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Plasminogen activator gene expression is induced by the src oncogene product and tumor promoters by Bell, S M, Brackenbury, R W, Leslie, N D, Degen, J L

“…Secretion of urokinase-type plasminogen activator (uPA) by chicken embryo fibroblasts (CEF) is increased approximately 50-fold following transformation by Rous…”
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The chicken urokinase-type plasminogen activator gene by Leslie, N D, Kessler, C A, Bell, S M, Degen, J L

“…The chicken urokinase-type plasminogen activator (uPA) cDNA and gene have been isolated and the complete nucleotide sequence of each established. cDNA sequence…”
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Relation of metabolic control to complications in diabetes mellitus by Leslie, N D, Sperling, M A

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A Mouse Model of Galactose-1-Phosphate Uridyl Transferase Deficiency by Leslie, Nancy D., Yager, Karen L., McNamara, Pamela D., Segal, Stanton

“…Galactose-1-phosphate uridyl transferase (GALT) deficiency causes classical galactosemia in humans. Mice deficient in this enzyme were created by gene…”
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Antenatal corticosteroids and newborn screening for congenital adrenal hyperplasia by King, J L, Naber, J M, Hopkin, R J, Repaske, D R, Bailey, L, Leslie, N D

“…To assess the effect of reported corticosteroid exposure on neonatal levels of 17-hydroxyprogesterone (17-OHP), the cortisol precursor used in newborn…”
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Endocrine disorders in children by Chernausek, S D, Leslie, N D, Bloch, C A, Sperling, M A

“…The childhood endocrine disorders in which surgical intervention is a common or indispensable part of management are succinctly reviewed. Pathophysiology and…”
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