Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. (Q34000892)

30 July 2017

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

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30 July 2017

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13

Fowzan S Alkuraya

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30 July 2017

1

Ranad Shaheen

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30 July 2017

Zuhair Rahbeeni

2

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30 July 2017

Amal Alhashem

3

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30 July 2017

Eissa Faqeih

4

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30 July 2017

Qi Zhao

5

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30 July 2017

Yong Xiong

6

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30 July 2017

Agaadir Almoisheer

7

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30 July 2017

Sarah M Al-Qattan

8

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30 July 2017

Halima A Almadani

9

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30 July 2017

Noufa Al-Onazi

10

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30 July 2017

Badi S Al-Baqawi

11

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30 July 2017

Mohammad Ali Saleh

12

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30 July 2017

language of work or name

English

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publication date

15 May 2014

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American Journal of Human Genetics

30 July 2017

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30 July 2017

94

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30 July 2017

898-904

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30 July 2017

6

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Genomic analysis of primordial dwarfism reveals novel disease genes

30 July 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

An update on serine deficiency disorders

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Exome sequencing identifies the cause of a mendelian disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Disruption of the phosphatidylserine decarboxylase gene in mice causes embryonic lethality and mitochondrial defects

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

What syndrome is this? Neu-Laxova syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

3-Phosphoglycerate dehydrogenase, a key enzyme for l-serine biosynthesis, is preferentially expressed in the radial glia/astrocyte lineage and olfactory ensheathing glia in the mouse brain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

L-serine and glycine serve as major astroglia-derived trophic factors for cerebellar Purkinje neurons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

A further example of a lethal autosomal recessive condition in sibs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Neu-Laxova syndrome: report of a case and comments

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Cerebral abnormalities in the Neu-Laxova syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Brief clinical observations: the Neu-Laxova syndrome--a distinct entity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

L-serine deficiency caused by genetic Phgdh deletion leads to robust induction of 4E-BP1 and subsequent repression of translation initiation in the developing central nervous system

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Targeted disruption of the mouse 3-phosphoglycerate dehydrogenase gene causes severe neurodevelopmental defects and results in embryonic lethality

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Comments on the Neu-Laxova syndrome and CAD complex

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121479

Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity

29 October 2018

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12 December 2020

Glu-108 is essential for subunit assembly and dimer stability of D-phosphoglycerate dehydrogenase from Entamoeba histolytica

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12 December 2020

Neu-Laxova syndrome: two further case reports and comments on proposed subclassification

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12 December 2020

Elaboration of the phenotypic changes of the upper limbs in the Neu-Laxova syndrome

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12 December 2020

10.1016/J.AJHG.2014.04.015

Identifiers

DOI

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30 July 2017

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30 July 2017

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