Cargando…

Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches

Direct mutation analysis is the major method for glutaric acidemia I (GA-I) prenatal diagnosis, while systemic application of a biochemical strategy is rare. We describe our experiences with metabolite measurement together with mutation analysis in GA-I prenatal diagnosis at a single center over 10...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xiao, Bing, Qiu, Wenjuan, Ye, Jun, Zhang, Huiwen, Zhu, Hong, Wang, Lei, Liang, Lili, Xu, Feng, Chen, Ting, Xu, Yan, Yu, Yongguo, Gu, Xuefan, Han, Lianshu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251148/ https://www.ncbi.nlm.nih.gov/pubmed/32508882 http://dx.doi.org/10.3389/fgene.2020.00496

Ejemplares similares

Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches
por: Ding, Si, et al.
Publicado: (2022)

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China
por: E., Huishu, et al.
Publicado: (2021)

Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type
por: Chen, Ting, et al.
Publicado: (2021)

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies
por: Dai, Mengyao, et al.
Publicado: (2020)

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening
por: Ling, Shiying, et al.
Publicado: (2022)

Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients
por: Gong, Zhuwen, et al.
Publicado: (2021)

Glutaric Acidemia, Pathogenesis and Nutritional Therapy
por: Li, Qian, et al.
Publicado: (2021)

Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations
por: Lv, Weigang, et al.
Publicado: (2022)

Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China
por: Chang, Siyu, et al.
Publicado: (2022)

Orthopaedic manifestations of glutaric acidemia Type 1
por: Imerci, Ahmet, et al.
Publicado: (2020)

Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1
por: Zayed, Hatem, et al.
Publicado: (2019)

Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples
por: Li, Lingping, et al.
Publicado: (2023)

Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China
por: Zhou, Jinfu, et al.
Publicado: (2023)

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients
por: Liang, Lili, et al.
Publicado: (2021)

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

Late-onset cblC defect: clinical, biochemical and molecular analysis
por: Ding, Si, et al.
Publicado: (2023)

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1
por: Barroso, Madalena, et al.
Publicado: (2023)

A new celll model of glutaric acidemia type I and the toxicity research
por: Zhang, Cai, et al.
Publicado: (2013)

Detection of glutaric acidemia type 1 in infants through tandem mass spectrometry
por: Babu, Ruby P., et al.
Publicado: (2015)

Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency
por: Ling, Shiying, et al.
Publicado: (2023)

Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma
por: Ye, Jun, et al.
Publicado: (2018)

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia
por: Liang, Lili, et al.
Publicado: (2019)

Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients
por: Xiao, Bing, et al.
Publicado: (2020)

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients
por: Zhu, Tianwen, et al.
Publicado: (2017)

Neonatal Astrocyte Damage Is Sufficient to Trigger Progressive Striatal Degeneration in a Rat Model of Glutaric Acidemia-I
por: Olivera-Bravo, Silvia, et al.
Publicado: (2011)

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study
por: Yu, Yue, et al.
Publicado: (2021)

Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism
por: Khan, Adnan, et al.
Publicado: (2020)

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development
por: Fan, Yanjie, et al.
Publicado: (2017)

A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1
por: Rayat, Sima, et al.
Publicado: (2021)

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses
por: Guenzel, Adam J., et al.
Publicado: (2021)

Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping
por: Carmant, Laurence, et al.
Publicado: (2021)

MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome
por: Karaca, Emin, et al.
Publicado: (2018)

Maternal body fluid lncRNAs serve as biomarkers to diagnose ventricular septal defect: from amniotic fluid to plasma
por: Wang, Huaming, et al.
Publicado: (2023)

ProtTrans-Glutar: Incorporating Features From Pre-trained Transformer-Based Models for Predicting Glutarylation Sites
por: Indriani, Fatma, et al.
Publicado: (2022)

Serum differential proteomic profiling of patients with isolated methylmalonic acidemia by iTRAQ
por: Li, Sitao, et al.
Publicado: (2022)

Increased Glutamate Receptor and Transporter Expression in the Cerebral Cortex and Striatum of Gcdh (-/-) Mice: Possible Implications for the Neuropathology of Glutaric Acidemia Type I
por: Lagranha, Valeska Lizzi, et al.
Publicado: (2014)

Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient
por: Alaei, Mohammad Reza, et al.
Publicado: (2020)

Prenatal Diagnosis of Organic Acidemias at a Tertiary Center
por: Tanacan, A, et al.
Publicado: (2019)

Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia
por: Ji, Guang, et al.
Publicado: (2022)

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease
por: Zhang, Huiwen, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_b6guq2o768ij1du974d8dub7g8