4.7 Article

An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Clinical Neurology

Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency

Ghada M. H. Abdel-Salam et al.

Summary: In this study, a consanguineous Egyptian family with siblings affected by asparagine synthetase deficiency syndrome was reported. Clinical manifestations included congenital microcephaly, early-onset epileptic encephalopathy, and intracranial hemorrhage. Novel homozygous missense variant in the ASNS gene was identified using whole exome sequencing, confirming the diagnosis.

NEUROPEDIATRICS (2021)

Article Chemistry, Analytical

Development, validation and application of LC-MS/MS method for quantification of amino acids, kynurenine and serotonin in human plasma

David Virag et al.

JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS (2020)

Article Genetics & Heredity

A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency

Chun Wang et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2020)

Article Endocrinology & Metabolism

Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency

Stephanie J. Sacharow et al.

MOLECULAR GENETICS AND METABOLISM (2018)

Review Biochemistry & Molecular Biology

Asparagine synthetase: Function, structure, and role in disease

Carrie L. Lomelino et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2017)

Article Clinical Neurology

The first report of Japanese patients with asparagine synthetase deficiency

Takahiro Yamamoto et al.

BRAIN & DEVELOPMENT (2017)

Article Clinical Neurology

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

Mohammed Zain Seidahmed et al.

BMC NEUROLOGY (2016)

Article Clinical Neurology

Worsening of Seizures After Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency

Muhammad Talal Alrifai et al.

PEDIATRIC NEUROLOGY (2016)

Article Endocrinology & Metabolism

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine

Elizabeth Emma Palmer et al.

MOLECULAR GENETICS AND METABOLISM (2015)

Article Nutrition & Dietetics

Structure of the blood-brain barrier and its role in the transport of amino acids

RA Hawkins et al.

JOURNAL OF NUTRITION (2006)