Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism. - Wikidata - awgldk - TriplyDB

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.

http://www.wikidata.org/entity/Q35800982

about

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report Clinical exome sequencing: results from 2819 samples reflecting 1000 families.Targeting asparagine and autophagy for pulmonary adenocarcinoma therapy.Amino acid synthesis deficiencies.Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.Asparagine Synthetase deficiency-report of a novel mutation and review of literature.Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome)Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.Asparagine synthetase: Function, structure, and role in disease.Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

P2860

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P2860

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.

http://www.wikidata.org/entity/Q35800982

description

2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.

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Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.

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Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.

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Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.

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Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.

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Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.

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P1433

Journal of Inherited Metabolic Disorders Reports

P1476

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.

@en

P2093

Abdulrhman A Alqahtani

http://www.w3.org/2001/XMLSchema#string

Ali Al Othaim

http://www.w3.org/2001/XMLSchema#string

Arndt Rolfs

http://www.w3.org/2001/XMLSchema#string

Daniel Trujillano

http://www.w3.org/2001/XMLSchema#string

Hesham Alshaalan

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Hussam Assiri

http://www.w3.org/2001/XMLSchema#string

Majid Alfadhel

http://www.w3.org/2001/XMLSchema#string

Manal Alaamery

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Muhammad Talal Alrifai

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Shatha Al Rasheed

http://www.w3.org/2001/XMLSchema#string

P2860

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

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

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

An update on serine deficiency disorders.

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

Congenital glutamine deficiency with glutamine synthetase mutations.

Molecular structure of the human asparagine synthetase gene.

Cloning of cDNA for asparagine synthetase from rat Sertoli cell.

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11-16

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scholarly article

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10.1007/8904_2014_405

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22

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2015-02-08T00:00:00Z

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272098064

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25663424

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4486270

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