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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

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Medical genetics: present and future benefits

Autor: L J, Elsas

Publikováno v: Emory law journal. 49(3)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4716174eecfc863648ac3e58f5ea72b5
https://pubmed.ncbi.nlm.nih.gov/12645563

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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

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https://pubmed.ncbi.nlm.nih.gov/10408771

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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

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https://pubmed.ncbi.nlm.nih.gov/10213041

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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

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https://pubmed.ncbi.nlm.nih.gov/9737142

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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

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https://pubmed.ncbi.nlm.nih.gov/9664599

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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

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https://pubmed.ncbi.nlm.nih.gov/9450900

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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

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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

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