Cargando…

Mutations of ABCD1 gene and phenotype of Vietnamese patients with X-linked adrenoleukodystrophy (X-ALD)

Detalles Bibliográficos
Autores principales:	Dung, Vu Chi, Shimozawa, Nobuyuki, Khanh, Nguyen Ngoc, Thao, Bui Phuong, Ngoc, Can Thi Bich, Dat, Nguyen Phu, Hoan, Nguyen Thi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850246/ http://dx.doi.org/10.1186/1687-9856-2013-S1-P127

Ejemplares similares

The pattern of disorders of sex development in Vietnamese children
por: Nga, Pham Thu, et al.
Publicado: (2015)

Phenotype & genotype of congenital adrenal hyperplasia due to mutation in the type ii 3β-hydroxysteroid dehydrogenase gene: a report of two Vietnamese families
por: Dung, Vu Chi, et al.
Publicado: (2015)

Genotype and phenotype of Vietnamese patients with androgen insensitivity syndrome
por: Dung, Vu Chi, et al.
Publicado: (2013)

Molecular genetics and phenotype of 26 Vietnamese patients with congenital hyperinsulinism
por: Dung, Vu Chi, et al.
Publicado: (2013)

Primary hyperlipidemia in children: clinical, biochemistry characteristics and outcome
por: Khanh, Nguyen Ngoc, et al.
Publicado: (2015)

Novel mutation in the hepatocyte nuclear factor 1B/maturity – onset diabetes of the young type 5 gene – unreported Vietnamese case
por: Dung, Vu Chi, et al.
Publicado: (2015)

Treatment outcome and some affecting factors of congenital adrenalhyperplasia
por: Dat, Nguyen Phu, et al.
Publicado: (2013)

Factors affecting on the mental development in children with Congenital Hypothyroidism
por: Dat, Nguyen Phu, et al.
Publicado: (2013)

Study relationship between the value of 17-OHP and the value of testosterone in monitoring for congenital adrenal hyperplasia
por: Huong, Ngo Thi Thu, et al.
Publicado: (2013)

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes
por: Matsukawa, Takashi, et al.
Publicado: (2010)

Adrenal cortex tumors: clinical features and laboratory finding
por: Ngoc, Can Thi Bich, et al.
Publicado: (2013)

Phenotype, genotype of neonatal diabetes mellitus due to insulin gene mutation
por: Ngoc, Can Thi Bich, et al.
Publicado: (2015)

Eye and renal complication in pediatric patients with diabetes mellitus type 1
por: Hieu, Nguyen Tran Ngoc, et al.
Publicado: (2015)

Updated registry of congenital adrenal hyperplasia at the north pediatric referral centre of Vietnam
por: Dung, Vu Chi, et al.
Publicado: (2015)

Effect of osteogenesis imperfecta on children and their families
por: Dung, Vu Chi, et al.
Publicado: (2013)

Multiple endocrine glands insufficiency due to langerhans cell histiocytosis (LCH): a case report
por: Mai, DoThi Thanh, et al.
Publicado: (2015)

Congenital adrenal hyperplasia with cholestatic jaundice: a case report
por: Mai, DoThi Thanh, et al.
Publicado: (2015)

Hypopituitarism due to central nervous system germinoma: a case report
por: Mai, DoThi Thanh, et al.
Publicado: (2015)

Clinical and laboratory characteristics of Prader-Willi syndrome
por: Thao, Bui Phuong, et al.
Publicado: (2013)

Phenotype of patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
por: Dung, Vu Chi, et al.
Publicado: (2015)

Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I
por: Can, Ngoc Thi Bich, et al.
Publicado: (2021)

Mixed embryonal carcinoma – teratoma cause early puberty: a case report
por: Ngoc, Can Thi Bich, et al.
Publicado: (2015)

Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations
por: Ngoc, Can Thi Bich, et al.
Publicado: (2022)

Adrenocortical tumor in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Dung, Vu Chi, et al.
Publicado: (2015)

Phenotype and genotype of patients with disorder of sex development due to 5α-reductase deficiency
por: Dung, Vu Chi, et al.
Publicado: (2015)

Molecular genetics, correlation between genotype and phenotype of 65 Vietnames patients with congenital hyperinsulinism
por: Duong, Dang Anh, et al.
Publicado: (2015)

Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene
por: Trinh The, Son, et al.
Publicado: (2021)

Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family
por: Nguyen, Ngoc-Lan, et al.
Publicado: (2020)

Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations
por: Nguyen, Huy-Hoang, et al.
Publicado: (2020)

Clinical, para-clincal and outcomes of diabetes ketoacidosis in Vietnam national hospital pediatrics
por: Nga, Nguyen Thi Thu, et al.
Publicado: (2015)

Matrix metalloproteinases in Vietnamese patients with colorectal cancer
por: Bui, Thao Phuong, et al.
Publicado: (2017)

Pseudoaldosteronism due to mutation of SCNN1A gene: a case report
por: Ngoc, Can Thi Bich, et al.
Publicado: (2015)

Hearing loss in osteogenesis imperfecta patients
por: Ha, Lai Thu, et al.
Publicado: (2015)

De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome
por: Thanh, Duong Chi, et al.
Publicado: (2020)

A case report of neonatal adrenocortical carcinoma
por: Thao, Bui Phuong, et al.
Publicado: (2015)

Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia
por: Vu, Quang Van, et al.
Publicado: (2014)

HER2 Status and Its Heterogeneity in Gastric Carcinoma of Vietnamese Patient
por: Phan, Dang Anh Thu, et al.
Publicado: (2017)

Ocular Biometrics of Vietnamese Young Adults with Myopia
por: Nguyen, Hien Thi Thu, et al.
Publicado: (2019)

Onto the differences in formulating micro-/nanoparticulate drug delivery system from Thai silk and Vietnamese silk: A critical comparison
por: Nguyen, Ngoc Yen, et al.
Publicado: (2023)

Host Genetic Risk Factors Associated with COVID-19 Susceptibility and Severity in Vietnamese
por: Nhung, Vu Phuong, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_tbijih24ob6kq79ma68uimi764