(Q35800982)

10 August 2017

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism (English)

1 reference

congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

10 August 2017

1 reference

Majid Alfadhel

1

1 reference

10 August 2017

Muhammad Talal Alrifai

2

1 reference

10 August 2017

Daniel Trujillano

3

1 reference

10 August 2017

Hesham Alshaalan

4

1 reference

10 August 2017

Ali Al Othaim

5

1 reference

10 August 2017

Shatha Al Rasheed

6

1 reference

10 August 2017

Hussam Assiri

7

1 reference

10 August 2017

Abdulrhman A Alqahtani

8

1 reference

10 August 2017

Manal Alaamery

9

1 reference

10 August 2017

Arndt Rolfs

10

1 reference

10 August 2017

Wafaa Eyaid

11

1 reference

10 August 2017

8 February 2015

1 reference

Journal of Inherited Metabolic Disorders Reports

10 August 2017

1 reference

10 August 2017

22

1 reference

10 August 2017

11-16

1 reference

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486270

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486270

An update on serine deficiency disorders

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486270

Cloning of cDNA for asparagine synthetase from rat Sertoli cell.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486270

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486270

Molecular structure of the human asparagine synthetase gene.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486270

Congenital glutamine deficiency with glutamine synthetase mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486270

Creatine deficiency in the brain: a new, treatable inborn error of metabolism

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4486270

25 September 2018

Identifiers

DOI

10.1007/8904_2014_405

1 reference

10 August 2017

1 reference

10 August 2017

1 reference