Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway-Reference-Cited by-全球学者库

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

Published:2014-09 Issue:3 Volume:95 Page:285-293
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference25 articles.

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3. Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review;Manning;Am. J. Med. Genet. A.,2004

4. Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH;Shaheen;Am. J. Hum. Genet.,2014

5. Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics;Tabatabaie;Hum. Mutat.,2009

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