Click on one of these terms to refine your search
1 to 10 of 75 literature results
Steatorrhea and malabsorption of lipid-soluble vitamins due to exocrine pancreatic insufficiency are common in patients with cystic fibrosis and are p…
Authors: Eyal Shteyer, Ann Saada, Avraham Shaag, Fida' Aziz Al-Hijawi, Rojette Kidess, Shoshanah Revel-Vilk, Orly Elpeleg
Source: American journal of human genetics. 2009 Mar
View Free Full TextMyelination is a complex, developmentally regulated process whereby myelin proteins and lipids are coordinately expressed by myelinating glial cells. …
Authors: Simon Edvardson, Hiroko Hama, Avraham Shaag, John Moshe Gomori, Itai Berger, Dov Soffer, Stanley H Korman, Ilana Taustein, Ann Saada, Orly Elpeleg
Source: American journal of human genetics. 2008 Nov
View Free Full TextA consanguineous Israeli Bedouin kindred presented with an autosomal-recessive nonlethal phenotype of severe psychomotor retardation and extrapyramida…
Authors: Ortal Barel, Zamir Shorer, Hagit Flusser, Rivka Ofir, Ginat Narkis, Gal Finer, Hanah Shalev, Ahmad Nasasra, Ann Saada, Ohad S Birk
Source: American journal of human genetics. 2008 May
View Free Full TextIn two siblings we found a mitochondrial encephalomyopathy, characterized by developmental delay, hemiplegia, convulsions, asymmetrical brain atrophy,…
Authors: Daniele Ghezzi, Ann Saada, Pio D'Adamo, Erika Fernandez-Vizarra, Paolo Gasparini, Valeria Tiranti, Orly Elpeleg, Massimo Zeviani
Source: American journal of human genetics. 2008 Sep
View Free Full TextHomozygosity mapping was performed in five patients from a consanguineous family who presented with infantile mitochondrial encephalomyopathy attribut…
Authors: Ann Saada, Simon Edvardson, Matan Rapoport, Avraham Shaag, Khaled Amry, Chaya Miller, Haya Lorberboum-Galski, Orly Elpeleg
Source: American journal of human genetics. 2008 Jan
View Free Full TextMitochondrial complex I deficiency is the most prevalent and least understood disorder of the oxidative phosphorylation system. The genetic cause of m…
Authors: Ann Saada, Rutger O Vogel, Saskia J Hoefs, MariĆ«l A van den Brand, Hans J Wessels, Peter H Willems, Hanka Venselaar, Avraham Shaag, Flora Barghuti, Orit Reish,…
Source: American journal of human genetics. 2009 Jun
View Free Full TextAcute liver failure in infancy accompanied by lactic acidemia was previously shown to result from mtDNA depletion. We report on 13 unrelated infants w…
Authors: Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Olga Karicheva, Hanna Mandel, Noa Ofek, Reeval Segel,…
Source: American journal of human genetics. 2009 Sep
View Free Full TextRecurrent episodes of life-threatening myoglobinuria in childhood are caused by inborn errors of glycogenolysis, mitochondrial fatty acid beta-oxidati…
Authors: Avraham Zeharia, Avraham Shaag, Riekelt H Houtkooper, Tareq Hindi, Pascale de Lonlay, Gilli Erez, Laurence Hubert, Ann Saada, Yves de Keyzer, Gideon Eshel,…
Source: American journal of human genetics. 2008 Oct
View Free Full TextHomozygosity mapping was performed in a consanguineous Sephardic Jewish family with three patients who presented with severe infantile encephalopathy …
Authors: Simon Edvardson, Avraham Shaag, Olga Kolesnikova, John Moshe Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, Orly Elpeleg
Source: American journal of human genetics. 2007 Oct
View Free Full TextComplex I deficiency is the most common respiratory chain defect, clinically manifesting by severe neonatal lactic acidosis, Leigh's disease, or vario…
Authors: Itai Berger, Eli Hershkovitz, Avraham Shaag, Simon Edvardson, Ann Saada, Orly Elpeleg
Source: Annals of neurology. 2008 Mar
View Full Text