Pesquisas alternativas:
narr » nar (Expandir a Pesquisa), barr (Expandir a Pesquisa), nair (Expandir a Pesquisa)
computers » computer (Expandir a Pesquisa)
nail » natl (Expandir a Pesquisa), neil (Expandir a Pesquisa), nair (Expandir a Pesquisa)
ngoc » ngo (Expandir a Pesquisa)
narr » nar (Expandir a Pesquisa), barr (Expandir a Pesquisa), nair (Expandir a Pesquisa)
computers » computer (Expandir a Pesquisa)
nail » natl (Expandir a Pesquisa), neil (Expandir a Pesquisa), nair (Expandir a Pesquisa)
ngoc » ngo (Expandir a Pesquisa)
1
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Bui, Thao Phuong, Nguyen, Khanh Ngoc
Publicado no Ann Transl Med (2015)
“...BACKGROUND AND OBJECTIVE: Osteogenesis imperfecta (OI) comprises a group of disorders principally...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
2
Por Dung, Vu Chi, Thao, Bui Phuong, Khanh, Nguyen Ngoc, Ngoc, Can Thi Bich, Fukami, Maki
Publicado no Ann Transl Med (2015)
“...A rare form of the 46,XY disorders of sex development (DSD), 5α-reductase deficiency was first...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
3
Por Dung, Vu Chi, Thao, Bui Phuong, Ngoc, Can Thi Bich, Khanh, Nguyen Ngoc, Ellard, Sian
Publicado no Ann Transl Med (2015)
“...Maturity-onset diabetes of the young type 5 (MODY5), a type of dominantly inherited diabetes...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
4
Por Dung, Vu Chi, Thao, Bui Phuong, Khanh, Nguyen Ngoc, Ngoc, Can Thi Bich, Morel, Yves
Publicado no Ann Transl Med (2015)
“.... It includes a group of autosomal recessive disorders caused by the deficiency of one of the enzymes involved...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
5
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Flanagan, Sarah, Ellard, Sian
Publicado no Ann Transl Med (2015)
“...BACKGROUND: Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
6
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Bui, Thao Phuong, Nguyen, Khanh Ngoc, Hwu, Wuh-Liang
Publicado no Ann Transl Med (2015)
“... to the lysosomes I. As a consequence the enzymes are secreted into the extracellular space, and high activities can...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
7
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Le, Hang Thi Thuy, Nguyen, Khanh Ngoc, Bui, Huong Thi
Publicado no Ann Transl Med (2015)
“...BACKGROUND AND OBJECTIVE: Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
8
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Le, Hang Thi Thuy, Nguyen, Khanh Ngoc, Bui, Huong Thi
Publicado no Ann Transl Med (2015)
“... analysis and management in a 4 years 6-month-old girl was study. Based on analysis of a patient’s clinical...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
9
10
Por Nguyen, Khanh Ngoc, Vu, Dung Chi, Can, Ngoc Thi Bich, Bui, Thao Phuong, Nguyen, Mai Chi, Yamaguchi, Seiji
Publicado no Ann Transl Med (2015)
“... of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase (IVD...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
11
Por Thao, Bui Phuong, Dung, Vu Chi, Khanh, Nguyen Ngoc, Ngoc, Can Thi Bich, Hoan, Nguyen Thi, Phuong, Nguyen Thi
Publicado no Ann Transl Med (2015)
“...BACKGROUND: Turner syndrome is a relatively common chromosomal disorder. The disease affects only...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
12
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Bui, Thao Phuong, Nguyen, Khanh Ngoc, Zennaro, Maria-Christina, Wudy, Stefan A.
Publicado no Ann Transl Med (2015)
“...BACKGROUND: Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
13
Por Nguyen, Khanh Ngoc, Vu, Dung Chi, Bui, Thao Phuong, Can, Ngoc Thi Bich, Nguyen, Hoan Thi, Nguyen, Dat Phu
Publicado no Ann Transl Med (2015)
“... management of pediatric hyperlipidemia can have a significant impact upon the disease course and can prevent...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
14
Por Nguyen, Khanh Ngoc, Vu, Dung Chi, Fukao, Toshiyuki, Bui, Thao Phuong, Can, Ngoc Thi Bich, Nguyen, Hoan Thi, Yamaguchi, Seiji
Publicado no Ann Transl Med (2015)
“... Hospital of Pediatrics-Hanoi-Vietnam from 2005 to 2012. A total of 21 cases from 19 families were analyzed...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
15
Por Duong, Dang Anh, Dung, Vu Chi, Dat, Nguyen Phu, Ngoc, Can Thi Bich, Thao, Bui Phuong, Khanh, Nguyen Ngoc, Dien, Tran Minh
Publicado no Ann Transl Med (2015)
“... that pathogenic mechanisms of HI have not been completely elucidated. Patients with HI can have novel mutations...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
16
Por Duong, Dang Anh, Dung, Vu Chi, Dat, Nguyen Phu, Ngoc, Can Thi Bich, Thao, Bui Phuong, Khanh, Nguyen Ngoc, Dien, Tran Minh
Publicado no Ann Transl Med (2015)
“... and KCNJ11, HNF4A and GLUD genes, genotype and phenotype correlations of children with HI. METHODS: A...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
17
Por Duong, Dang Anh, Dung, Vu Chi, Dat, Nguyen Phu, Ngoc, Can Thi Bich, Thao, Bui Phuong, Khanh, Nguyen Ngoc, Dien, Tran Minh
Publicado no Ann Transl Med (2015)
“... later in life can present in early infancy with hyperinsulinism. The study was to describe a child...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
18
Por Dung, Vu Chi, Fukami, Maki, Ngoc, Can Thi Bich, Thao, Bui Phuong, Khanh, Nguyen Ngoc, Nga, Pham Thu, Dat, Nguyen Phu, Ogata, Tsutomu
Publicado no Ann Transl Med (2015)
“... > T) was identified in a patient of 83 years of age. The novel missense mutation p.L705F (c.2113C > T) was identified...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
19
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Bui, Thao Phuong, Nguyen, Khanh Ngoc, Nguyen, Dat Phu, Craig, Maria, Hattersley, Andrew, Nguyễn, Hoan Thi
Publicado no Ann Transl Med (2015)
“...BACKGROUND AND OBJECTIVE: Transient neonatal diabetes mellitus (TNDM) is a rare but remarkable form...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
20
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Bui, Thao Phuong, Nguyen, Khanh Ngoc, Nguyen, Dat Phu, Craig, Maria, Ellard, Sian, Nguyen, Hoan Thi
Publicado no Ann Transl Med (2015)
“... are believed to disrupt the cleavage of the proinsulin chain or the binding of the A and B chains to form...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo