Glutaric Acidemia Type I
What's New
Last Posted: Mar 07, 2023
- Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation.
Shadmehri Azam Ahmadi, et al. Journal of cellular biochemistry 2018 0 (3) 3367-3372 - Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.
Kurkina Marina V, et al. Metabolic brain disease 2020 0 (6) 1009-1016 - Biochemical, molecular, and clinical features of patients with glutaric acidemia type 1 identified through large-scale newborn screening in Zhejiang Province, China.
Lin Yiming, et al. Clinica chimica acta; international journal of clinical chemistry 2022 0 113-118 - Whole Exome Sequencing Enhanced Imputation Identifies 85 Metabolite Associations in the Alpine CHRIS Cohort.
König Eva, et al. Metabolites 2022 0 (7) - Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan.
Shigematsu Yosuke et al. International journal of neonatal screening 2021 7(3) - Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Miller Marcus J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct - Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Lin Yiming et al. Clinica chimica acta; international journal of clinical chemistry 2019 Mar - [Detection of GCDH mutations in five Chinese patients with glutaric acidemia type I].
Lin Yiming, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 2 (1) 39-42 - Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Boy Nikolas et al. Journal of inherited metabolic disease 2016 Nov - Glutaric acidemia type I
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:May 01, 2024
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