Zobrazeno 1 - 10 of 30 pro vyhledávání: '"Irene Warren"'
1
Decreased incorporation ofd-glucosamine into glycosphingolipids of intact familial dysautonomia lymphoblasts
Autor: Paula M. Strasberg, Anton Novak, Irene Warren
Publikováno v: Journal of Molecular Neuroscience. 6:121-130
Familial Dysautonomia (FD) is an autosomal recessive Ashkenazi Jewish genetic disease, of unknown etiology, involving deficits in both autonomic and sensory functions. Previously, we found statistically significant increases in globotriaosylceramide
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3033d9e41ebfa3d941ef6383d45f7bc
https://doi.org/10.1007/bf02736771
Zobrazit plný text záznamu
2
Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?
Autor: M.A. Skomorowski, J. T. R. Clarke, J. W. Callahan, W.L. Hilson, Irene Warren, P.M. Strasberg
Publikováno v: Biochemical medicine and metabolic biology. 53(1)
Gaucher disease (GD) is an inherited deficiency of beta-glucocerebrosidase (EC 3.1.2.45, gene symbol GBA). In type I GD, the CNS is not involved (nonneuronopathic), whereas in type II GD (acute neuronopathic) CNS involvement is early and rapidly prog
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fc31a3d7144f6d85b4a0fbc5008fc5a
https://pubmed.ncbi.nlm.nih.gov/7857677
Zobrazit plný text záznamu
3
Genotype-phenotype pitfalls in Gaucher disease
Autor: John W. Callahan, Paula M. Strasberg, Laurence E. Becker, Barbara Triggs-Raine, Marie-Anne Skomorowski, Joe T.R. Clarke, Irene Warren, Beth McInnes
Publikováno v: Journal of clinical laboratory analysis. 8(4)
Gaucher disease (GD), caused by inherited deficiency of beta-glucocerebrosidase (beta-Glc, EC 3.1.2.45), is classified type I if the CNS is not involved (non-neuronopathic), type II if CNS involvement is early and rapidly progressive (acute neuronopa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::546eae0ede94f5538f6b97af0332865a
https://pubmed.ncbi.nlm.nih.gov/7931818
Zobrazit plný text záznamu
4
Increased globotriaosylceramide in familial dysautonomia
Autor: Paula M. Strasberg, Herman Yeger, Irene Warren
Publikováno v: Lipids. 27(12)
Familial Dysautonomia (FD) is an autosomal recessive disease of unknown etiology, occurring primarily in Ashkenazi Jews. Patients are neurologically impaired, with deficits primarily in autonomic and sensory functions. The biochemical and genetic def
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e12977d4846c6ab34e57faac2610120
https://pubmed.ncbi.nlm.nih.gov/1336803
Zobrazit plný text záznamu
8
HPLC analysis of urinary sulfatide: An aid in the diagnosis of metachromatic leukodystrophy
Autor: Marie-Anne Skomorowski, Paula M. Strasberg, Irene Warren, J. Alexander Lowden
Publikováno v: Clinical Biochemistry. 18:92-97
Metachromatic leukodystrophy (MLD) presents as six separate variant forms, four allelic and two non-allelic. It is diagnosed in the laboratory by a decrease in the fibroblast or leukocyte arylsulfatase A activity, generally against an artificial subs
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f04e857c0a7ec266afd721a3b467cde7
https://doi.org/10.1016/s0009-9120(85)80088-6
Zobrazit plný text záznamu
10
The Library in the School
Autor: Frances Simpson, Irene Warren
Publikováno v: The Course of Study. 1:339-342
It is always difficult to outline any subject in a general way, and so it is with the subject of school libraries, their function in the schools, and relations to other libraries. As there are no two people or communities alike, so there are no two s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ec7f1bc513768e9ce22d0d8286a136ca
https://doi.org/10.1086/452775
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje