Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by a recognizable pattern of severe malformations leading to prenatal or early postnatal lethality. Homozygous mutations in PHGDH, a gene involved in the first and limiting step in L-serine biosynthesis, were recently ide...

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Главные авторы: Acuna-Hidalgo, Rocio, Schanze, Denny, Kariminejad, Ariana, Nordgren, Ann, Kariminejad, Mohamad Hasan, Conner, Peter, Grigelioniene, Giedre, Nilsson, Daniel, Nordenskjöld, Magnus, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Kayserili, Hülya, Elcioglu, Nursel, Ghaderi-Sohi, Siavash, Goodarzi, Payman, Setayesh, Hamidreza, van de Vorst, Maartje, Steehouwer, Marloes, Pfundt, Rolph, Krabichler, Birgit, Curry, Cynthia, MacKenzie, Malcolm G., Boycott, Kym M., Gilissen, Christian, Janecke, Andreas R., Hoischen, Alexander, Zenker, Martin
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2014
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Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4157144/
https://ncbi.nlm.nih.gov/pubmed/25152457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.07.012
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