Cargando…

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

PURPOSE: To characterize the phenotypic and genotypic variations associated with Glutaric aciduria type 1 (GA1) in Chinese patients. METHODS: We analyzed the clinical, neuroradiological, biochemical, and genetic information from 101 GA1 patients in mainland China. RESULTS: 20 patients were diagnosed...

Descripción completa

Detalles Bibliográficos
Autores principales:	E., Huishu, Liang, Lili, Zhang, Huiwen, Qiu, Wenjuan, Ye, Jun, Xu, Feng, Gong, Zhuwen, Gu, Xuefan, Han, Lianshu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293753/ https://www.ncbi.nlm.nih.gov/pubmed/34306040 http://dx.doi.org/10.3389/fgene.2021.702374

Ejemplares similares

Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches
por: Xiao, Bing, et al.
Publicado: (2020)

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

Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches
por: Ding, Si, 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)

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients
por: Ali, Amanat, et al.
Publicado: (2021)

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)

Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China
por: Yang, Lili, et al.
Publicado: (2011)

Glutaric aciduria type1: CT diagnosis
por: Rai, Santosh P. V.
Publicado: (2009)

Glutaric aciduria type 2 presenting with acute respiratory failure in an adult
por: Ersoy, Ebru Ortac, et al.
Publicado: (2015)

Audiological and otologic manifestations of glutaric aciduria type I
por: Chen, Yen-Chi, et al.
Publicado: (2020)

Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia
por: Sousa Martins, Rute, et al.
Publicado: (2022)

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

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

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)

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)

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)

Diagnosis and management of glutaric aciduria type I – revised recommendations
por: Kölker, Stefan, et al.
Publicado: (2011)

Glutaric aciduria type I: A treatable neurometabolic disorder
por: Kamate, Mahesh, et al.
Publicado: (2012)

A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1
por: Pusti, S., et al.
Publicado: (2014)

Clinical features and course of glutaric aciduria-Report of six cases
por: Chandra, Sadanandavalli Retnaswami, et al.
Publicado: (2015)

Intrathecal Baclofen for Hypertonia Secondary to Glutaric Aciduria Type I
por: Frenkel, Max, et al.
Publicado: (2020)

Glutaric Aciduria Type II With Ketosis in a Male Infant
por: Tandon, Krutika, et al.
Publicado: (2021)

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey
por: Bozaci, Ayse Ergül, et al.
Publicado: (2023)

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

Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations
por: Park, June Dong, et al.
Publicado: (2010)

Glutaric aciduria type 1 as a cause of dystonic cerebral palsy
por: Mohamed, Sarar, et al.
Publicado: (2015)

Glutaric Aciduria type I and acute renal failure — Coincidence or causality?
por: Pode-Shakked, Ben, et al.
Publicado: (2014)

Glutaric Aciduria Type 1 with Microcephaly: Masquerading as Spastic Cerebral Palsy
por: Sharawat, Indar K., et al.
Publicado: (2018)

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients
por: Vester, Marloes E.M., et al.
Publicado: (2016)

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey
por: Bernstein, Laurie, et al.
Publicado: (2020)

Pediatric Glutaric Aciduria Type 1: 14 Cases, Diagnosis and Management
por: Cornelius, Leema P., et al.
Publicado: (2021)

Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis
por: Boy, Nikolas, et al.
Publicado: (2020)

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

Striatal necrosis in type 1 glutaric aciduria: Different stages in two siblings
por: Sen, Anitha, et al.
Publicado: (2011)

Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I
por: Zinnanti, William J, et al.
Publicado: (2014)

A novel ETFB mutation in a patient with glutaric aciduria type II
por: Sudo, Yosuke, et al.
Publicado: (2015)

Glutaric Aciduria Type 1: First Reported Cases in Three Saudi Patients
por: Coates, Robert, et al.
Publicado: (1994)

Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC
por: Huang, Lingtong, et al.
Publicado: (2022)

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
por: Märtner, E. M. Charlotte, et al.
Publicado: (2021)

Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1
por: Abdul Wahab, Siti Aishah, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_q52kqgolgp26ftm6qon4dbqt91