Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
about
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayGenetics and genomic medicine in Saudi ArabiaMutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfismAn overview of inborn errors of complex lipid biosynthesis and remodelling.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.On the phenotypic spectrum of serine biosynthesis defects.Discovery of mutations for Mendelian disorders.Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.Amino acid synthesis deficiencies.Adaptive response to l-serine deficiency is mediated by p38 MAPK activation via 1-deoxysphinganine in normal fibroblasts.A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation.Molecular autopsy in maternal-fetal medicine.Prenatal features of Pena-Shokeir sequence with atypical response to acoustic stimulation.Prenatal genetic diagnosis of Neu-Laxova syndrome.The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients.Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia.The Synergistic Effect of Serine with Selenocompounds on the Expression of SelP and GPx in HepG2 Cells.Enhanced vulnerability to oxidative stress and induction of inflammatory gene expression in 3-phosphoglycerate dehydrogenase-deficient fibroblasts.
P2860
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P2860
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
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2014 nî lūn-bûn
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2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2014 թվականի մայիսին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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name
Neu-Laxova syndrome, an inborn ...... caused by mutations in PHGDH.
@ast
Neu-Laxova syndrome, an inborn ...... caused by mutations in PHGDH.
@en
Neu-Laxova syndrome, an inborn ...... caused by mutations in PHGDH.
@nl
type
label
Neu-Laxova syndrome, an inborn ...... caused by mutations in PHGDH.
@ast
Neu-Laxova syndrome, an inborn ...... caused by mutations in PHGDH.
@en
Neu-Laxova syndrome, an inborn ...... caused by mutations in PHGDH.
@nl
prefLabel
Neu-Laxova syndrome, an inborn ...... caused by mutations in PHGDH.
@ast
Neu-Laxova syndrome, an inborn ...... caused by mutations in PHGDH.
@en
Neu-Laxova syndrome, an inborn ...... caused by mutations in PHGDH.
@nl
P2093
P2860
P1476
Neu-Laxova syndrome, an inborn ...... caused by mutations in PHGDH.
@en
P2093
Agaadir Almoisheer
Amal Alhashem
Badi S Al-Baqawi
Eissa Faqeih
Halima A Almadani
Mohammad Ali Saleh
Noufa Al-Onazi
Ranad Shaheen
Sarah M Al-Qattan
P2860
P304
P356
10.1016/J.AJHG.2014.04.015
P407
P577
2014-05-15T00:00:00Z