1 to 10 of 37 literature results

• Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.

  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

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• Acute infantile liver failure due to mutations in the TRMU gene.

  Acute 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

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• Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

  Myelination 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

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• The H syndrome is caused by mutations in the nucleoside transporter hENT3.

  The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, h…

  Authors: Vered Molho-Pessach, Israela Lerer, Dvorah Abeliovich, Ziad Agha, Abdulasalam Abu Libdeh, Valentina Broshtilova, Orly Elpeleg, Abraham Zlotogorski

  Source: American journal of human genetics. 2008 Oct

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• FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.

  In 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

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• C6ORF66 is an assembly factor of mitochondrial complex I.

  Homozygosity 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

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• Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

  Recurrent 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

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• Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

  Complex 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

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• Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.

  Homozygosity 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

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• SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

  Four patients, aged 7-20 years, suffered from recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis a…

  Authors: Ronen Spiegel, Avraham Shaag, Simon Edvardson, Hanna Mandel, Polina Stepensky, Stavit A Shalev, Yoseph Horovitz, Ophry Pines, Orly Elpeleg

  Source: Annals of neurology. 2009 Jun 22

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