The first case of 4-hydroxybutyric aciduria in Japan-Reference-Cited by-同舟云学术

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The first case of 4-hydroxybutyric aciduria in Japan

Published:2001-03 Issue:2 Volume:23 Page:128-130
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Ishiguro Yoshiko,Kajita Mitsuharu,Aoshima Tsutomu,Watanabe Kazuyoshi,Kimura Masahiko,Yamaguchi Seiji

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference7 articles.

1. Inherited disorders of GABA metabolism;Jakobs;J Inherit Metab Dis,1993

2. 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism;Gibson;Neuropediatrics,1998

3. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients;Gibson;Pediatrics,1997

4. Diagnosis and management of glutaric aciduria type 1;Baric;J Inherit Metab Dis,1998

5. Human succinic semialdehyde dehydrogenase: molecular cloning and chromosomal localization;Trettel;Adv Exp Med Biol,1997

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1. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency;Molecular Genetics and Metabolism;2024-05

2. Inborn errors of amino acid metabolism phenylketonuria and disorders of biopterin metabolism;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020

3. SSADH deficiency possibly associated with enzyme activity-reducing SNPs;Brain and Development;2016-10

4. Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency;JIMD Reports;2016

5. Accumulated Metabolites of Hydroxybutyric Acid Serve as Diagnostic and Prognostic Biomarkers of Ovarian High-Grade Serous Carcinomas;Cancer Research;2015-12-18

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