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Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias.
Orphanet J Rare Dis. 2018 Jun 20;13(1):97. doi: 10.1186/s13023-018-0840-4.
Orphanet J Rare Dis. 2018.
PMID: 29925411
Free PMC article.
Angelman syndrome and isovaleric acidemia: What is the link?
Lambrecht A, Pichard S, Maurey H, Segarra NG, Drunat S, Acquaviva-Bourdain C, Passemard S, Benoist JF, Fauret-Amsellem AL, Schiff M.
Lambrecht A, et al. Among authors: segarra ng.
Mol Genet Metab Rep. 2015 Mar 30;3:36-8. doi: 10.1016/j.ymgmr.2015.03.004. eCollection 2015 Jun.
Mol Genet Metab Rep. 2015.
PMID: 26937393
Free PMC article.
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NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Segarra NG, Ballhausen D, Crawford H, Perreau M, Campos-Xavier B, van Spaendonck-Zwarts K, Vermeer C, Russo M, Zambelli PY, Stevenson B, Royer-Bertrand B, Rivolta C, Candotti F, Unger S, Munier FL, Superti-Furga A, Bonafé L.
Segarra NG, et al.
Am J Med Genet A. 2015 Dec;167A(12):2902-12. doi: 10.1002/ajmg.a.37338. Epub 2015 Aug 19.
Am J Med Genet A. 2015.
PMID: 26286438
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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM.
Mayorandan S, et al. Among authors: segarra ng.
Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7.
Orphanet J Rare Dis. 2014.
PMID: 25081276
Free PMC article.
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