Zobrazeno 1 - 10
of 898
pro vyhledávání: '"Schiffmann Raphael"'
Autor:
Elroy-Stein Orna, Schiffmann Raphael, Huyghe Aurélia, Kantor Liraz, Horzinski Laetitia, Boespflug-Tanguy Odile, Fogli Anne
Publikováno v:
BMC Neurology, Vol 10, Iss 1, p 94 (2010)
Abstract Background Eukaryotic translation initiation factor 2B (eIF2B), a guanine nucleotide exchange factor (GEF) and a key regulator of translation initiation under normal and stress conditions, causes an autosomal recessive leukodystrophy of a wi
Externí odkaz:
https://doaj.org/article/3a5882f109d54b4cad9ae9815d3fcad9
Autor:
Lidicker Jeffrey R, Brady Roscoe O, Quirk Jane M, Murray Gary J, Ries Markus, Gupta Surya N, Schiffmann Raphael, Moore David F
Publikováno v:
BMC Neurology, Vol 8, Iss 1, p 41 (2008)
Abstract Background We previously demonstrated improved sweating after enzyme replacement therapy (ERT) in Fabry disease using the thermo-regularity sweat and quantitative sudomotor axon reflex tests. Skin-impedance, a measure skin-moisture (sweating
Externí odkaz:
https://doaj.org/article/4c89f9edeb874fdf9bbdcef72f1c6e14
Autor:
Ebenuwa, Ifechukwude, Violet, Pierre-Christian, Padayatty, Sebastian J., Wang, Yaohui, Tu, Hongbin, Wilkins, Kenneth J., Moore, David F., Eck, Peter, Schiffmann, Raphael, Levine, Mark
Publikováno v:
In The Journal of Nutrition July 2023 153(7):1994-2003
Autor:
Bakalov Vladimir K, Vanderhoof Vien H, Schiffmann Raphael, Gauthier-Barichard Fernande, Fogli Anne, Nelson Lawrence M, Boespflug-Tanguy Odile
Publikováno v:
BMC Women's Health, Vol 4, Iss 1, p 8 (2004)
Abstract Background Premature Ovarian Failure (POF), defined as the development of hypergonadotropic amenorrhea before the age of 40 years, occurs in about 1% of all women. Other than karyotype abnormalities, very few genes are known to be associated
Externí odkaz:
https://doaj.org/article/a70e8573f3c349029206441fefe58e94
Publikováno v:
BMC Neurology, Vol 2, Iss 1, p 4 (2002)
Abstract Background Fabry disease is a lysosomal X-linked enzyme deficiency of α-galactosidase A associated with an increased mortality and morbidity due to renal failure, cardiac disease and early onset stroke. Methods We examined the functional bl
Externí odkaz:
https://doaj.org/article/31bd220dee504a97ab49c970985eaf71
Autor:
Dimitriadis Emilios, Campia Umberto, Panza Julio A, Pursley Randall, Altarescu Gheona, Moore David F, Schiffmann Raphael
Publikováno v:
BMC Cardiovascular Disorders, Vol 2, Iss 1, p 1 (2002)
Abstract Background Fabry disease is an X-linked recessive lysosomal storage disease resulting in the cellular accumulation of globotriaosylceramide particularly globotriaosylceramide. The disease is characterized by a dilated vasculopathy with arter
Externí odkaz:
https://doaj.org/article/4cfc39b89a82438c96c1db25a61b0f3a
Autor:
Koch, Rebecca L., Soler-Alfonso, Claudia, Kiely, Bridget T., Asai, Akihiro, Smith, Ariana L., Bali, Deeksha S., Kang, Peter B., Landstrom, Andrew P., Akman, H. Orhan, Burrow, T. Andrew, Orthmann-Murphy, Jennifer L., Goldman, Deberah S., Pendyal, Surekha, El-Gharbawy, Areeg H., Austin, Stephanie L., Case, Laura E., Schiffmann, Raphael, Hirano, Michio, Kishnani, Priya S.
Publikováno v:
In Molecular Genetics and Metabolism March 2023 138(3)
Akademický článek
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Akademický článek
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Publikováno v:
In The Lancet Neurology October 2019 18(10):962-972