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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Recent Articles
21.
Langley S, Lai K, Dembure P, Hjelm L, Elsas L
Am J Hum Genet
. 1997 Feb;
60(2):366-72.
PMID: 9012409
Human orythrocytes that are homozygous for the Duarte enzyme variant of galactosemia (D/D) have a characteristic isoform on isoelectric focusing and 50% reduction in galactose-1-phosphate uridyltransferase (GALT) enzyme activity. The...
22.
Elsas L, Hayes R, Muralidharan K
J Med Assoc Ga
. 1997 Jan;
86(1):50-4.
PMID: 9029887
No abstract available.
23.
Pasquali M, Still M, Vales T, Rosen R, Evinger J, Dembure P, et al.
Proc Assoc Am Physicians
. 1997 Jan;
109(1):33-41.
PMID: 9010914
Ehlers-Danlos syndrome type VI (EDS VI) is an autosomal recessive disorder of connective tissue characterized by hyperextensible, friable skin and joint hypermobility. Severe scoliosis and ocular fragility are present in...
24.
Berry G, Nissim I, Mazur A, Elsas L, Singh R, KLEIN P, et al.
Biochem Mol Med
. 1995 Dec;
56(2):158-65.
PMID: 8825079
We developed an intravenous and oral [13C]galactose breath test for the in vivo study of galactose metabolism. Following an intravenous bolus of 7 mg/kg of [1-13C]galactose in the fasting state,...
25.
Pasquali N, Still M, Dembure P, Elsas L
Am J Hum Genet
. 1995 Dec;
57(6):1508-10.
PMID: 8533784
No abstract available.
26.
Longo N, Langley S, Still M, Elsas L
Prenat Diagn
. 1995 Nov;
15(11):1070-4.
PMID: 8606887
Leprechaunism is an autosomal recessive disease characterized by intrauterine and postnatal growth restriction, loss of glucose homeostasis, and severe insulin resistance. This disease is caused by a failure of function...
27.
Longo N, Langley S, Griffin L, Elsas L
J Clin Endocrinol Metab
. 1995 May;
80(5):1496-501.
PMID: 7538143
Leprechaunism is an autosomal recessive disorder caused by mutations in the insulin receptor gene and characterized by intrauterine and postnatal growth restriction, abnormal glucose homeostasis, and severe insulin-resistance. Here we...
28.
Elsas L, Langley S, Steele E, Evinger J, Fridovich-Keil J, Brown A, et al.
Am J Hum Genet
. 1995 Mar;
56(3):630-9.
PMID: 7887416
We describe a stratagem for identifying new mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. GALT enzyme activity and isoforms were defined in erythrocytes from probands and their first-degree relatives....
29.
Bennet J, Dembure P, Elsas L
Am J Med Genet
. 1995 Jan;
55(1):21-6.
PMID: 7702090
We report on two unrelated patients with different presentations of mannosidosis. One patient was affected in early childhood with a severe phenotype characteristic of type I mannosidosis. The other was...
30.
Longo N, Singh R, Griffin L, Langley S, Parks J, Elsas L
J Clin Endocrinol Metab
. 1994 Sep;
79(3):799-805.
PMID: 8077364
Mutations in the insulin receptor gene cause the severe insulin-resistant syndromes leprechaunism and Rabson-Mendenhall syndrome. There is no accepted therapy for these inherited conditions. Here we report the results of...