Zobrazeno 1 - 6
of 6
pro vyhledávání: '"MESH: Amino Acid Metabolism, Inborn Errors"'
Publikováno v:
médecine/sciences
médecine/sciences, 2021, 37 (5), pp.507-518. ⟨10.1051/medsci/2021057⟩
médecine/sciences, 2021, 37 (5), pp.507-518. ⟨10.1051/medsci/2021057⟩
Inborn Errors of Metabolism (IEM) are rare and heterogenous disorders. For most IEMs, clinical signs are non-specific or belated. Late diagnosis is frequent, leading to death or severe sequelae. Some IEM induce intermediate metabolites circulating in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deae06826ea2e5b874c9d2718b08c04f
https://doi.org/10.1051/medsci/2021057
https://doi.org/10.1051/medsci/2021057
Autor:
Chiara Zurzolo, Maria Pia Sperandeo, Simona Paladino, Luigi Maiuri, Gianfranco Sebastio, George D Maroupulos, Maurizio Taglialatela, Generoso Andria
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2005, 13 (5), pp.628-34. ⟨10.1038/sj.ejhg.5201376⟩
European Journal of Human Genetics, 2005, 13 (5), pp.628-34. ⟨10.1038/sj.ejhg.5201376⟩
European Journal of Human Genetics, Nature Publishing Group, 2005, 13 (5), pp.628-34. ⟨10.1038/sj.ejhg.5201376⟩
European Journal of Human Genetics, 2005, 13 (5), pp.628-34. ⟨10.1038/sj.ejhg.5201376⟩
Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in the intestine and kidney. The SLC7A7 gene, mutated in LPI, encodes the y(+)LA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::141cd387c7c1d38ed19cc8d095cd2b2f
https://doi.org/10.1038/sj.ejhg.5201376
https://doi.org/10.1038/sj.ejhg.5201376
Autor:
Hugues Henry, Robyn M. Murphy, Elsa Zanolla, Uwe Schlattner, Oliver Speer, Lukas J. Neukomm, Theo Wallimann, Rodney J. Snow
Publikováno v:
Scopus-Elsevier
Europe PubMed Central
Molecular and Cellular Biochemistry
Molecular and Cellular Biochemistry, Springer Verlag, 2004, 256-257 (1-2), pp.407-24
Molecular and Cellular Biochemistry, Springer Verlag, 2004, 256-257 (1-2), pp.407-424
Europe PubMed Central
Molecular and Cellular Biochemistry
Molecular and Cellular Biochemistry, Springer Verlag, 2004, 256-257 (1-2), pp.407-24
Molecular and Cellular Biochemistry, Springer Verlag, 2004, 256-257 (1-2), pp.407-424
International audience; Creatine (Cr) plays a key role in cellular energy metabolism and is found at high concentrations in metabolically active cells such as skeletal muscle and neurons. These, and a variety of other cells, take up Cr from the extra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93b644146db3c191e3bd95fc7c26de20
https://doi.org/10.1023/b:mcbi.0000009886.98508.e7
https://doi.org/10.1023/b:mcbi.0000009886.98508.e7
Publikováno v:
Néphrologie et Thérapeutique
Néphrologie et Thérapeutique, Elsevier Masson, 2014, 10 (6), pp.433-40
Néphrologie et Thérapeutique, Elsevier Masson, 2014, 10 (6), pp.433-40
International audience; Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent Mendelian inherited disorder. It covers 6.1% of incident ESRD patients in France in 2011. Long left untreated, this disease will soon benefit from targe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ef0182182458b54873bdd8901cc74ce3
https://pubmed.ncbi.nlm.nih.gov/25086476
https://pubmed.ncbi.nlm.nih.gov/25086476
Autor:
Yannick Le Meur, Emilie Cornec-Le Gall, Yahsou Delmas, Véronique Frémeaux-Bacchi, Laurent Doucet, Loïc De Parscau, Jean-François Benoist, Hélène Ogier
Publikováno v:
American Journal of Kidney Diseases
American Journal of Kidney Diseases, Elsevier, 2014, 63 (1), pp.119-23. ⟨10.1053/j.ajkd.2013.08.031⟩
American Journal of Kidney Diseases, Elsevier, 2014, 63 (1), pp.119-23. ⟨10.1053/j.ajkd.2013.08.031⟩
International audience; A 20-year-old man was hospitalized for malignant hypertension, mechanical hemolysis, and kidney failure. Kidney biopsy confirmed glomerular and arteriolar thrombotic microangiopathy. Etiologic analyses, which included ADAMTS13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa683c70519a0c12d4818d4df05485d
https://hal.univ-brest.fr/hal-01011789
https://hal.univ-brest.fr/hal-01011789
Autor:
Thibault Moreau, Frédéric Sedel, D. Perennou, M.-H. Horellou, C. Tonneti, Alice Masurel-Paulet, Emmanuel Roze, C. Thauvin-Robinet, Stéphane Giraudier, G. Bruneteau, G. Couvreur, M. Giroud, D. Grabli, Laurence Faivre, H. Ogier de Baulny
Publikováno v:
Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2008, 79 (6), pp.725-8. 〈10.1136/jnnp.2007.133025〉
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2008, 79 (6), pp.725-8. ⟨10.1136/jnnp.2007.133025⟩
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2008, 79 (6), pp.725-8. 〈10.1136/jnnp.2007.133025〉
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2008, 79 (6), pp.725-8. ⟨10.1136/jnnp.2007.133025⟩
International audience; BACKGROUND: Cobalamin C disease is the most common inborn error of cobalamin metabolism with an autosomal recessive mode of inheritance and mutations within the MMACHC gene. Clinical features, including systemic, haematologica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cc0d761b71c7691f483c2584bb05e28
https://hal.archives-ouvertes.fr/hal-00775974
https://hal.archives-ouvertes.fr/hal-00775974