Search Results - "Leslie, N D"

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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Motor tics, stereotypies, and self-flagellation in primrose syndrome by Dalal, P, Leslie, N D, Lindor, N M, Gilbert, D L, Espay, A J

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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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Haldane was right: De novo mutations in androgen insensitivity syndrome by Leslie, Nancy D.

“…J Pediatr 1998;132:917-8…”
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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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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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Bronchial Neoplasms among the Ceylonese by COORAY, G H, LESLIE, N D

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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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MOTOR TICS, STEREOTYPIES, AND SELFFLAGELLATION IN PRIMROSE SYNDROME by DALAL, P, LESLIE, N. D, LINDOR, N. M, GILBERT, D. L, ESPAY, A. J

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D.O.1 A two-tiered approach to newborn screening for Duchenne muscular dystrophy (DMD) using dried blood spots for sequential CK and DNA analysis by Mendell, J.R, Shilling, C, Leslie, N.D, Flanigan, K.M, al-Dahhak, R, Gastier-Foster, J, Kneile, K, Dunn, D.M, Duval, B, Aoyagi, A, Hamil, C, Mahmoud, M, Roush, K, Bird, L, Chandrasekar, R, Weiss, R.B

“…Abstract Historically, newborn screening for DMD has been challenging in part due to elevations in serum CK related to birth trauma, resulting in…”
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MOTOR TICS, STEREOTYPIES, AND SELF-FLAGELLATION IN PRIMROSE SYNDROME by Dalal, P., Leslie, N.D., Lindor, N.M., Gilbert, D.L., Espay, A.J.

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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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Cardiovascular Fitness and Mortality After Contemporary Cardiac Rehabilitation by Martin, Billie-Jean, MD, PhD, Arena, Ross, PhD, PT, Haykowsky, Mark, PhD, Hauer, Trina, BPAS, MSc, Austford, Leslie D., MN, MBA, CMPE, Knudtson, Merril, MD, Aggarwal, Sandeep, MD, FRCPC, Stone, James A., MD, PhD

“…Abstract Objective To assess the association between cardiorespiratory fitness (CRF) and outcomes in a cardiac rehabilitation (CR) cohort. Patients and Methods…”
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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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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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Fetal surgery for neural tube defects by Sutton, Leslie N., MD

“…Open spina bifida remains a major source of disability despite an overall decrease in incidence. It is frequently diagnosed prenatally and can thus –…”
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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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