Zobrazeno 1 - 10 of 39 pro vyhledávání: '"L. J. Elsas"'
1
Glucose Transporters
Autor: L J, Elsas, N, Longo
Publikováno v: Annual Review of Medicine. 43:377-393
The recent cloning of families of glucose transporters has made it possible to study their structure and their role in an increasing number of disease states. Two classes of glucose transporters transfer glucose across the plasma membrane of human ce
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3f76b778fbc2b63885bc2d78465f344
https://doi.org/10.1146/annurev.me.43.020192.002113
Zobrazit plný text záznamu
3
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene
Autor: L, Tyfield, J, Reichardt, J, Fridovich-Keil, D T, Croke, L J, Elsas, W, Strobl, L, Kozak, T, Coskun, G, Novelli, Y, Okano, C, Zekanowski, Y, Shin, M D, Boleda
Publikováno v: Human mutation. 13(6)
Classical galactosemia is caused by a deficiency in activity of the enzyme galactose-1-phosphate uridyl transferase (GALT), which, in turn, is caused by mutations at the GALT gene. The disorder exhibits considerable allelic heterogeneity and, at the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::361415df4d195b791a61faf43d4df19d
https://pubmed.ncbi.nlm.nih.gov/10408771
Zobrazit plný text záznamu
4
Campomelic syndrome and deletion of SOX9
Autor: P N, Olney, L S, Kean, D, Graham, L J, Elsas, K M, May
Publikováno v: American journal of medical genetics. 84(1)
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 reversal. Here we describe an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::eaae24fe4eefe713446b4077dc71eb01
https://pubmed.ncbi.nlm.nih.gov/10213041
Zobrazit plný text záznamu
5
The impact of Gaucher disease and its treatment on quality of life
Autor: L J Elsas nd, K A Grinzaid, R P Hayes, E B Duffey
Publikováno v: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation. 7(6)
To obtain information about how Gaucher disease and its treatment, specifically enzyme replacement therapy, affect patients' health-related quality of life (HRQoL), we interviewed 16 patients with type I Gaucher disease (range 8-67 years). All but th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b220991356e64a268fc93578651221
https://pubmed.ncbi.nlm.nih.gov/9737142
Zobrazit plný text záznamu
6
Neural-tube defects are associated with low concentrations of cobalamin (vitamin B12) in amniotic fluid
Autor: M T, Steen, A M, Boddie, A J, Fisher, W, Macmahon, D, Saxe, K M, Sullivan, P P, Dembure, L J, Elsas
Publikováno v: Prenatal diagnosis. 18(6)
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 imp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::96d1906c670b4296c5aafed6e771bc07
https://pubmed.ncbi.nlm.nih.gov/9664599
Zobrazit plný text záznamu
7
Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts
Autor: K, Lai, S D, Langley, P P, Dembure, L N, Hjelm, L J, Elsas
Publikováno v: Human mutation. 11(1)
The Duarte allele (D) is a missense mutation (N314D) that produces a characteristic isoform and partial impairment of galactose-1-phosphate uridyltransferase (GALT) in human erythrocytes, fibroblasts, and transformed lymphoblasts. The position of thi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e7f502de8288a971d4c8c8440bb5a9dd
https://pubmed.ncbi.nlm.nih.gov/9450900
Zobrazit plný text záznamu
8
The Polyclinic at the 1996 Atlanta Olympic Village
Autor: L J Elsas, S B Eaton, E A Martin, J L Shoop, J L Askew, B A Woodfin, J D Cantwell, B M Morrisey
Publikováno v: The Medical journal of Australia. 167(11-12)
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.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31cb901e0f94f98f9841826677cbb3b5
https://pubmed.ncbi.nlm.nih.gov/9418800
Zobrazit plný text záznamu
9
Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI
Autor: M, Pasquali, M J, Still, T, Vales, R I, Rosen, J D, Evinger, P P, Dembure, N, Longo, L J, Elsas
Publikováno v: Proceedings of the Association of American Physicians. 109(1)
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 some patients. This disease i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0bcd0fbb57b72d6f8eb4d298f71f8ba3
https://pubmed.ncbi.nlm.nih.gov/9010914
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje