Cargando…

A Novel Mutation (A148V) in the Glucose 6-phosphate Translocase (SLC37A4) Gene in a Korean Patient with Glycogen Storage Disease Type 1b

We report a Korean patient with glycogen storage disease type 1b (GSD-1b) whose diagnosis was confirmed by liver biopsy and laboratory results. The patient presented with delay of puberty and short stature on admission and had typical clinical symptoms of GSD as well as chronic neutropenia and infla...

Descripción completa

Detalles Bibliográficos
Autores principales:	Han, Sung-Hee, Ki, Chang-Seok, Lee, Ji-Eun, Hong, Young-Jin, Son, Byong-Kwan, Lee, Kyung-Hee, Choe, Yon-Ho, Lee, Soo-Youn, Kim, Jong-Won
Formato:	Texto
Lenguaje:	English
Publicado:	The Korean Academy of Medical Sciences 2005
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782211/ https://www.ncbi.nlm.nih.gov/pubmed/15953877 http://dx.doi.org/10.3346/jkms.2005.20.3.499

Ejemplares similares

Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib
por: Choi, Rihwa, et al.
Publicado: (2017)

Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib
por: Zhang, Yamei, et al.
Publicado: (2019)

SLC37A1 and SLC37A2 Are Phosphate-Linked, Glucose-6-Phosphate Antiporters
por: Pan, Chi-Jiunn, et al.
Publicado: (2011)

A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
por: Choi, So Yoon, et al.
Publicado: (2018)

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations
por: Choi, Rihwa, et al.
Publicado: (2016)

Does Type I Truly Dominate Hepatic Glycogen Storage Diseases in Korea?: A Single Center Study
por: Jeong, Yu Ju, et al.
Publicado: (2014)

Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib
por: Carlin, Marcelo Paschoalete, et al.
Publicado: (2013)

A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia
por: Dissanayake, Vajira HW, et al.
Publicado: (2011)

Undecaprenyl phosphate translocases confer conditional microbial fitness
por: Sit, Brandon, et al.
Publicado: (2022)

Glycogen storage disease type IV: a case report.
por: Lee, K. Y., et al.
Publicado: (1998)

Ribosome as a Translocase and Helicase
por: Bao, Chen, et al.
Publicado: (2021)

Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly
por: Kim, Jung Ah, et al.
Publicado: (2015)

Infections in Acute Leukemia: A Retrospective Study of 148 Patients
por: Lee, Myung Shik, et al.
Publicado: (1986)

SLC37A4‐CDG: Second patient
por: Wilson, Matthew P., et al.
Publicado: (2021)

One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency
por: Li, Xiaoli, et al.
Publicado: (2022)

Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report
por: Zhang, Liya, et al.
Publicado: (2023)

Glycogen storage diseases: An update
por: Gümüş, Ersin, et al.
Publicado: (2023)

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation
por: Marquardt, Thorsten, et al.
Publicado: (2020)

Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI
por: Wilson, Lane H., et al.
Publicado: (2019)

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia
por: Kim, Yoo-Mi, et al.
Publicado: (2020)

Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation
por: Melis, Daniela, et al.
Publicado: (2015)

Development of a Questionnaire for the Assessment of Quality of Life in Korean Children With Allergic Rhinitis
por: Kim, Jeong Hee, et al.
Publicado: (2014)

Next-generation glycogen storage diseases
por: Derks, Terry G. J., et al.
Publicado: (2018)

Biomarkers in Glycogen Storage Diseases: An Update
por: Molares-Vila, Alberto, et al.
Publicado: (2021)

Wernicke’s Encephalopathy: A Precipitation of Glycogen Storage Disease
por: Idris, Samah, et al.
Publicado: (2022)

The Physiopathological Role of the Exchangers Belonging to the SLC37 Family
por: Cappello, Anna Rita, et al.
Publicado: (2018)

Molecular Mechanics of RNA Translocases
por: Ding, Steve C., et al.
Publicado: (2012)

Assembling the Tat protein translocase
por: Alcock, Felicity, et al.
Publicado: (2016)

ON THE DIFFERING APPEARANCE OF INTRANUCLEAR AND CYTOPLASMIC GLYCOGEN IN LIVER CELLS IN GLYCOGEN STORAGE DISEASE
por: Sheldon, H., et al.
Publicado: (1962)

A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0
por: Soggia, Ana Priscila, et al.
Publicado: (2010)

miR‐148b inhibits glycolysis in gastric cancer through targeting SLC2A1
por: Ding, Xiangfu, et al.
Publicado: (2017)

Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b
por: Lee, Kyung Jae, et al.
Publicado: (2016)

The role of SLC34A2 in intestinal phosphate absorption and phosphate homeostasis
por: Marks, Joanne
Publicado: (2018)

Glycogen storage disease in a young cat with heart failure
por: Tanaka, Shigeki, et al.
Publicado: (2021)

Glycogen storage disease type 1a in the Ohio Amish
por: Scott, Ethan M., et al.
Publicado: (2022)

Glycogen storage disease in two sisters: A case report
por: Twanabasu, Sajal, et al.
Publicado: (2023)

Glycogen storage disease presenting as Cushing syndrome
por: Stefater, Margaret A., et al.
Publicado: (2019)

Neurological Characteristics of Pediatric Glycogen Storage Disease
por: Muzetti, Julio Henrique, et al.
Publicado: (2021)

Initial assembly steps of a translocase for folded proteins
por: Blümmel, Anne-Sophie, et al.
Publicado: (2015)

Glucose-6-Phosphate–Mediated Activation of Liver Glycogen Synthase Plays a Key Role in Hepatic Glycogen Synthesis
por: von Wilamowitz-Moellendorff, Alexander, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_qr454vq2msr9p16hd284ih750m