L J Elsas
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Explore the profile of L J Elsas including associated specialties, affiliations and a list of published articles.
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97
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Recent Articles
11.
Elsas L, Ljungqvist A, Ferguson-Smith M, Simpson J, Genel M, Carlson A, et al.
Genet Med
. 2001 Mar;
2(4):249-54.
PMID: 11252710
The International Olympic Committee (IOC) officially mandated gender verification for female athletes beginning in 1968 and continuing through 1998. The rationale was to prevent masquerading males and women with "unfair,...
12.
Lai K, Elsas L
Biochem Biophys Res Commun
. 2000 May;
271(2):392-400.
PMID: 10799308
To better understand the pathophysiology of galactose-1-phosphate uridyltransferase (GALT) deficiency in humans, we studied the mechanisms by which a GALT-deficient yeast survived on galactose medium. Under normal conditions, GALT-deficient yeast...
13.
Guasch A, Zayas C, Eckman J, Muralidharan K, Zhang W, Elsas L
J Am Soc Nephrol
. 1999 May;
10(5):1014-9.
PMID: 10232687
There is a large variability in the severity of the clinical manifestations of sickle cell anemia (SSA), including renal involvement. Haplotypes in the beta-globin gene cluster associated with the geographical...
14.
Olney P, Kean L, Graham D, Elsas L, May K
Am J Med Genet
. 1999 Apr;
84(1):20-4.
PMID: 10213041
The human SOX9 gene, located in chromosome region 17q24.1-25.1, encodes a transcription factor involved in chondrogenesis and testis development. Mutations in this gene cause campomelic syndrome (CMPS) with autosomal sex...
15.
Lai K, Willis A, Elsas L
J Biol Chem
. 1999 Feb;
274(10):6559-66.
PMID: 10037750
The substitution of arginine for glutamine at amino acid 188 (Q188R) ablates the function of human galactose-1-phosphate uridyltransferase (GALT) and is the most common mutation causing galactosemia in the white...
16.
Longo N, Elsas L
Adv Pediatr
. 1998 Sep;
45:293-313.
PMID: 9742306
Concentrative and facilitative glucose transporters are responsible for the movement of glucose across the plasma membrane of human cells. Defects in concentrative glucose transporters cause renal glycosuria and glucose-galactose malabsorption....
17.
Steen M, Boddie A, Fisher A, Macmahon W, Saxe D, Sullivan K, et al.
Prenat Diagn
. 1998 Jul;
18(6):545-55.
PMID: 9664599
While folate supplementation reduces the risk of recurrent neural-tube defects (NTD), both folate and cobalamin deficiencies may be independent risk-factors for neural-tube defects. Folate-dependence and impaired remethylation of homocysteine are...
18.
Eaton S, Woodfin B, Askew J, Morrisey B, Elsas L, Shoop J, et al.
Med J Aust
. 1998 Jan;
167(11-12):599-602.
PMID: 9418800
The Polyclinic, staffed mainly by volunteers, successfully provided primary health care during 16,519 patient encounters, 64% involving athletes. However, the profile of patient needs held some surprises.
19.
Berry G, Nissim I, Gibson J, Mazur A, Lin Z, Elsas L, et al.
Eur J Pediatr
. 1997 Aug;
156 Suppl 1:S43-9.
PMID: 9266215
We employed [1-13C] galactose in isotope kinetic studies to delineate whole body galactose metabolism in vivo in patients with galactose-1-phosphate uridyltransferase (GALT) deficiency. The data in three control and three...
20.
Landt M, Ritter D, Lai K, Benke P, Elsas L, Steiner R
J Pediatr
. 1997 Jun;
130(6):972-80.
PMID: 9202622
A recent study found a high prevalence of a missense mutation (S135L) in the gene for galactose 1-phosphate uridyltransferase (GALT) in black children with galactosemia (J Pediatr 1996; 128:89-95). In...