scholarly journals Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type�IIi congenital disorder of glycosylation: A case report

2019 ◽  
Author(s):  
Shaowei Yin ◽  
Liying Gong ◽  
Hao Qiu ◽  
Yan Zhao ◽  
Yan Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
Male Patient ◽  
Clinical Symptoms ◽  
Congenital Disorder ◽  
Compound Heterozygous ◽  
Type Iii ◽  
Congenital Disorder Of Glycosylation ◽  
Chinese Male

Congenital Disorder of Glycosylation-Ic: Case Report and Genetic Defect

2000 ◽  
Vol 31 (2) ◽  
pp. 60-62 ◽  
Author(s):  
F. Hanefeld ◽  
C. Körner ◽  
Ulrike Holzbach-Eberle ◽  
K. von Figura
Keyword(s):  
Case Report ◽  
Genetic Defect ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation

scholarly journals Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Kristen Westenfield ◽  
Kyriakie Sarafoglou ◽  
Laura C. Speltz ◽  
Elizabeth I. Pierpont ◽  
Joan Steyermark ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation

scholarly journals PCDH19-Related Epilepsy in Early Onset of Chinese Male Patient: Case Report and Literature Review

2020 ◽  
Vol 11 ◽  
Author(s):  
Xiao Yang ◽  
Jing Chen ◽  
BiXia Zheng ◽  
Xianyu Liu ◽  
Zixuan Cao ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Male Patient ◽  
Early Onset ◽  
Patient Case ◽  
Chinese Male

scholarly journals Stafne's Defect with Buccal Cortical Expansion: A Case Report

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
Paulo Sérgio Flores Campos ◽  
José Aloysio Carvalho Oliveira ◽  
Janaina Araújo Dantas ◽  
Daniela Pita de Melo ◽  
Nilson Pena ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Male Patient ◽  
Rare Case ◽  
Final Diagnosis ◽  
Private Clinic ◽  
Type Iii

A rare case of Stafne's bone cavity, type III-G, is reported in a 49-year-old male patient who had been referred to a private clinic for a routine evaluation. The final diagnosis was based on computed tomography. Scintigraphy played a fundamental role in determining the most likely etiology.

scholarly journals Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report

2021 ◽  
Vol 9 (26) ◽  
pp. 7876-7885
Author(s):  
Xia Yang ◽  
Zi-Li Lv ◽  
Qing Tang ◽  
Xiu-Qi Chen ◽  
Li Huang ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation

scholarly journals A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

2012 ◽  
Vol 21 (8) ◽  
pp. 844-849 ◽  
Author(s):  
Zafar Iqbal ◽  
Mohsin Shahzad ◽  
Lisenka E L M Vissers ◽  
Monique van Scherpenzeel ◽  
Christian Gilissen ◽  
...  
Keyword(s):  
Congenital Disorder ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Mild Phenotype ◽  
Congenital Disorder Of Glycosylation
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