Neu Laxova syndrome

Common Name(s)

Neu Laxova syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neu Laxova syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Neu Laxova syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
 

Author(s): Rocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, Ann Nordgren, Mohamad Hasan Kariminejad, Peter Conner, Giedre Grigelioniene, Daniel Nilsson, Magnus Nordenskjöld, Anna Wedell, Christoph Freyer, Anna Wredenberg, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Hülya Kayserili, Nursel Elcioglu, Siavash Ghaderi-Sohi, Payman Goodarzi, Hamidreza Setayesh, Maartje van de Vorst, Marloes Steehouwer, Rolph Pfundt, Birgit Krabichler, Cynthia Curry, Malcolm G MacKenzie, Kym M Boycott, Christian Gilissen, Andreas R Janecke, Alexander Hoischen, Martin Zenker

Journal: Am. J. Hum. Genet.. 2014 Sep;95(3):285-93.

 

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, ...

Last Updated: 6 Sep 2014

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Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
 

Author(s): Ranad Shaheen, Zuhair Rahbeeni, Amal Alhashem, Eissa Faqeih, Qi Zhao, Yong Xiong, Agaadir Almoisheer, Sarah M Al-Qattan, Halima A Almadani, Noufa Al-Onazi, Badi S Al-Baqawi, Mohammad Ali Saleh, Fowzan S Alkuraya

Journal: Am. J. Hum. Genet.. 2014 Jun;94(6):898-904.

 

Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by severe fetal growth restriction, microcephaly, a distinct facial appearance, ichthyosis, skeletal anomalies, and perinatal lethality. The pathogenesis of NLS remains unclear despite extensive clinical ...

Last Updated: 9 Jun 2014

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Neu-Laxova syndrome in an appropriate for gestational age newborn.
 

Author(s): Dilek Dilli, Handan Yaşar, Uğur Dilmen, Gülay Ceylaner

Journal: Indian J Dermatol Venereol Leprol. ;74(5):487-9.

 

Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings, and limb contractures are its key features. We present a case of Neu-Laxova syndrome in a male appropriate for ...

Last Updated: 4 Dec 2008

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Reviews from the PubMed Database

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The terms "Neu Laxova syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.