Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency-Reference-Cited by-同舟云学术

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Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency

Published:2006-04 Issue:4 Volume:1762 Page:494-498
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Jansen Erwin E.W.,Verhoeven Nanda M.,Jakobs Cornelis,Schulze Andreas,Senephansiri Henry,Gupta Maneesh,Snead O. Carter,Gibson K. Michael

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference22 articles.

1. Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype;Gibson;IUBMB Life,2005

2. Laboratory diagnosis of defects of creatine biosynthesis and transport;Verhoeven;Clin. Chim. Acta,2005

3. Creatine deficiency syndromes;Schulze;Mol. Cell. Biochem.,2003

4. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport;Almeida;Mol. Genet. Metab.,2004

5. X-linked creatine transporter defect: an overview;Salomons;J. Inherit. Metab. Dis.,2003

Cited by 32 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency;Epilepsia;2023-04-04

2. Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism;Brain Communications;2023

3. Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue;Journal of Child Neurology;2021-02-09

4. Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency;Orphanet Journal of Rare Diseases;2020-09-23

5. Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes;Metabolic Brain Disease;2020-03-14

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