Zobrazeno 241 - 250
of 297
pro vyhledávání: '"Orly Elpeleg"'
Autor:
Dov Soffer, Nathanel Zelnik, Anne Saada, Miriam Kutai, Yoram Nevo, Avraham Shaag, Joseph Jossiphov, Eli Shahar, Glenda Messer, Orly Elpeleg, Shaul Harel
Publikováno v:
Journal of child neurology. 17(7)
Four nonrelated children with myopathic mitochondrial DNA depletion are described. Two of them initially had normal motor development and two had mild motor delay. Motor arrest and regression started at age 6 to 21 months. All four had mitochondrial
Autor:
Avraham Shaag, Ghaleb Zughayar, Elizabeth Holme, Suzi Ronen, Drora Fisher, Orly Elpeleg, Haggit Hurvitz
Publikováno v:
Human mutation. 19(1)
Thirteen Israeli patients with type I tyrosinemia were studied. To the best of our knowledge, this group represents all of the patients that were diagnosed in Israel during the years 1987-1997. Their age of onset was variable but all the patients suf
Publikováno v:
The Journal of pediatrics. 139(6)
The effect of agents commonly used in the therapy of mitochondrial complex I deficiency was examined in fibroblasts from a patient. Marked improvement was observed with riboflavin, which nearly normalized the adenosine triphosphate production. The st
Autor:
Hanna Mandel, Ann Saada, Adel Shalata, Raymonde Szargel, Drora Berkowitz, Orly Elpeleg, Yefim Anbinder, Corina Hartman, Valentina Labay, Staffan Eriksson, Nadine Cohen, Mila Barak
Publikováno v:
Nature genetics. 29(3)
Mitochondrial DNA (mtDNA)-depletion syndromes (MDS; OMIM 251880) are phenotypically heterogeneous, autosomal-recessive disorders characterized by tissue-specific reduction in mtDNA copy number. Affected individuals with the hepatocerebral form of MDS
Autor:
S. H. Korman, Orly Elpeleg
Publikováno v:
Journal of inherited metabolic disease. 24(3)
Oral lysine administration to three patients with B6-nonresponsive gyrate atrophy reduced plasma ornithine concentrations by 21-31% within 1-2 days. No further reduction was noted with time.
Autor:
D. Hochner-Celnikier, Orly Elpeleg, Avraham Shaag, M. Nadjari, Cathy Hammerman, Ann Saada, Elena Golzand, Itai Berger
Publikováno v:
American journal of medical genetics. 102(2)
Carnitine palmitoyl transferase (CPT) II deficiency is usually manifested around puberty by exercise induced myoglobinuria. Two Ashkenazi Jewish sibs with the rare antenatal form of CPTII deficiency are reported. On the 5th gestational month perivent
Autor:
Avraham Shaag, Orly Elpeleg, Adina Joseph, Yair Anikster, Itai Berger, E. Regula Baumgartner, Maskit Bar-Meir
Publikováno v:
Molecular genetics and metabolism. 73(1)
Three novel mutations (IVS8+3a → g, N219Y, and E414X) were identified in 6 unrelated patients with mut 0 methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a → g mutation may contribut
Autor:
Rachel Straussberg, Yair Anikster, Orly Elpeleg, A Ta Shma, A Fattal-Valeski, A. Shaag, Dror Mevorach, B Ben Zeev, Hanoch Goldshmidt, Malcolm Rabie, Zamir Shorer, Shamir Zenvirt, Adi Tabib, Yoram Nevo, Yakov Fellig, Sharon Aharoni
Publikováno v:
European Journal of Paediatric Neurology. 17:S8
Autor:
Avraham Shaag, Orly Elpeleg
Publikováno v:
Journal of inherited metabolic disease. 22(4)
Canavan disease is an infantile neurodegenerative disease that is caused by mutations in the gene encoding the enzyme aspartoacylase. It has mainly been reported in Jewish families. Genotyping of newly diagnosed patients is essential for the carrier
Autor:
Hanna Mandel, Adina Joseph, Avraham Shaag, Orly Elpeleg, Annette Feigenbaum, Itai Berger, Ann Saada
Publikováno v:
American journal of medical genetics. 82(2)
We studied 13 patients with lipoamide dehydrogenase (LAD) deficiency, originating from seven Ashkenazi Jewish families. Their disease was characterized by recurrent attacks of vomiting, abdominal pain, and encephalopathy accompanied by elevated liver