Cargando…

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

BACKGROUND: Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients. This study aimed to identify the genetic mutations in a Chinese family w...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lin, Yiming, Zheng, Zhenzhu, Sun, Wenjia, Fu, Qingliu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5755286/ https://www.ncbi.nlm.nih.gov/pubmed/29304759 http://dx.doi.org/10.1186/s12881-017-0517-1

Ejemplares similares

Novel GLDC Compound Heterozygous Variant Leading to Nonketotic Hyperglycinemia: Case Report and Literature Review
por: Cao, Yanyan, et al.
Publicado: (2021)

Perioperative care of a child with non-ketotic hyperglycinemia
por: Allee, Joy, et al.
Publicado: (2010)

A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia
por: Kose, Engin, et al.
Publicado: (2017)

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy
por: Kruszka, Paul S., et al.
Publicado: (2014)

Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice
por: Pai, Yun Jin, et al.
Publicado: (2015)

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes
por: Feng, Wei-xing, et al.
Publicado: (2021)

Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia
por: Leung, Kit‐Yi, et al.
Publicado: (2020)

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans
por: Alfadhel, Majid, et al.
Publicado: (2016)

The Mutation Analysis of the AMT Gene in a Chinese Family With Nonketotic Hyperglycinemia
por: Zhou, Bing-bo, et al.
Publicado: (2022)

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings
por: Lin, Yiming, et al.
Publicado: (2018)

Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease
por: Fan, Kuan, et al.
Publicado: (2019)

The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis
por: Wang, Yang, et al.
Publicado: (2023)

Nonketotic hyperglycinemia case series
por: Iqbal, Mehtab, et al.
Publicado: (2015)

Identification and characterization of GLDC as host susceptibility gene to severe influenza
por: Zhou, Jie, et al.
Publicado: (2018)

gldc Is Essential for Renal Progenitor Patterning during Kidney Development
por: Weaver, Nicole E., et al.
Publicado: (2022)

Clinical and genetic analysis of five Chinese patients with urea cycle disorders
por: Zheng, Zhenzhu, et al.
Publicado: (2020)

Nonketotic Hyperglycinemia: Insight into Current Therapies
por: Nowak, Magdalena, et al.
Publicado: (2022)

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening
por: Lin, Yiming, et al.
Publicado: (2021)

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn
por: Lin, Yiming, et al.
Publicado: (2020)

Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening
por: Lin, Yiming, et al.
Publicado: (2021)

Correction to: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening
por: Lin, Yiming, et al.
Publicado: (2022)

Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature
por: Huynh, Minh-Tuan, et al.
Publicado: (2023)

Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report
por: Zheng, Zhenzhu, et al.
Publicado: (2020)

Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family
por: Zhou, Cong, et al.
Publicado: (2021)

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia
por: Swanson, Michael A., et al.
Publicado: (2015)

Expression of Neural Crest Markers GLDC and ERRFI1 is Correlated with Melanoma Prognosis
por: Jäger, Katharina, et al.
Publicado: (2019)

Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report
por: Li, Xiaojing, et al.
Publicado: (2020)

Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome
por: Huang, Li, et al.
Publicado: (2021)

Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1
por: Zhang, Cheng, et al.
Publicado: (2021)

Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants
por: Jiabao, REN, et al.
Publicado: (2023)

Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the PTPRQ Gene Causing Autosomal Recessive Hearing Loss in a Chinese Family
por: Jin, Yuan, et al.
Publicado: (2022)

Identification of compound heterozygous DNAH11 variants in a Han‐Chinese family with primary ciliary dyskinesia
por: Xiong, Ying, et al.
Publicado: (2021)

Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree
por: Wei, Chunli, et al.
Publicado: (2020)

Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature
por: Qin, Zailong, et al.
Publicado: (2020)

Studies of children with ketotic hypoglycemia.
por: Grunt, J. A., et al.
Publicado: (1970)

Ketotic hyperglycemia with movement disorder
por: Awasthi, Disha, et al.
Publicado: (2012)

Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family
por: Jin, Jie-Yuan, et al.
Publicado: (2020)

Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family
por: Zhao, Jiangang, et al.
Publicado: (2021)

Identification of novel compound heterozygous variants in the DNAH1 gene of a Chinese family with left-right asymmetry disorder
por: Yuan, Lamei, et al.
Publicado: (2023)

Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family
por: Biehler, Margaux, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_f4bt7nmp60eoc48uhh5nl4im51