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1
Por Dung, Vu Chi, Thao, Bui Phuong, Khanh, Nguyen Ngoc, Ngoc, Can Thi Bich, Fukami, Maki
Publicado no Ann Transl Med (2015)
“... is to identify mutations in SRD5A2 gene and to describe phenotype of detected mutative cases. Mutation analysis...”Publicado no Ann Transl Med (2015)
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Artigo
2
Por Dung, Vu Chi, Thao, Bui Phuong, Khanh, Nguyen Ngoc, Ngoc, Can Thi Bich, Morel, Yves
Publicado no Ann Transl Med (2015)
“... pedigrees. This is a case series study. Family history and clinical manifestations were described. Genomic...”Publicado no Ann Transl Med (2015)
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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)
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Artigo
4
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Bui, Thao Phuong, Nguyen, Khanh Ngoc, Hwu, Wuh-Liang
Publicado no Ann Transl Med (2015)
“...-Fluorometric assay was study. RESULTS AND CONCLUSIONS: Sixteen cases (seven girls and nine boys) onset at 5...”Publicado no Ann Transl Med (2015)
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Artigo
5
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Le, Hang Thi Thuy, Nguyen, Khanh Ngoc, Bui, Huong Thi
Publicado no Ann Transl Med (2015)
“..., lysosomal storage disorder caused by deficiency on the enzyme α-L-iduronidase. This defect results...”Publicado no Ann Transl Med (2015)
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Obter o texto integral
Artigo
6
Por Nguyen, Khanh Ngoc, Do, Mai Thi Thanh, Can, Ngoc Thi Bich, Hwu, Wuh-Liang, Vu, Dung Chi
Publicado no Ann Transl Med (2017)
“... identified 16 cases with classic infantile-onset and 5 cases were treated with ERT. Herein, we describe...”Publicado no Ann Transl Med (2017)
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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)
“... mucosa, and macroglossia, broadly built of the body habitus with a short neck, broad chest...”Publicado no Ann Transl Med (2015)
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Artigo
8
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Flanagan, Sarah, Ellard, Sian
Publicado no Ann Transl Med (2015)
“..., BE of −8 mmoL/L, blood glucose 42.46 mmoL/L, HbA1C 6.5%, total bilirubin 59.2 µmoL/L, direct bilirubin 29.7...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
9
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)
“... and kidney disturbances and mental retardation. Case report: the 2.5 months old girl admitted with chief...”Publicado no Ann Transl Med (2015)
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Obter o texto integral
Artigo
10
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)
“... with the features of cyanosis, allorhythmic, electrolyte imbalance with sodium of 119 mmoL/L, potassium of 7.4 mmoL...”Publicado no Ann Transl Med (2015)
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Obter o texto integral
Artigo
11
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)
“... triglyceride level was 9.5±5.2 mmol/L; finally, serum cholesterol level of HC group was 12.4±5.5 mmol/L. Five...”Publicado no Ann Transl Med (2015)
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Obter o texto integral
Artigo
12
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)
“... feeding, cyanosis, no seizure caused by severe hypoglycaemia (serum glucose 0.5 mmol/L). Hypoglycaemia...”Publicado no Ann Transl Med (2015)
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Obter o texto integral
Artigo
13
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)
“... are 214.2±190.6 pmol/L and 1.78±1.5 nmol/L. Gene mutations were detected in 64.29% of cases including...”Publicado no Ann Transl Med (2015)
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Obter o texto integral
Artigo
14
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)
“... cases had abdominal testes. Five different mutations of AR were identified from seven cases of three...”Publicado no Ann Transl Med (2015)
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Obter o texto integral
Artigo
15
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)
“... outcome of five cases from five unrelated families were study. All exon of KCNJ11, ABCC8 and INS genes...”Publicado no Ann Transl Med (2015)
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Obter o texto integral
Artigo
16
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)
“...: Six cases (three girls and three boys) onset at 129.2±128.8 days of age (median 101.5 days...”Publicado no Ann Transl Med (2015)
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Obter o texto integral
Artigo
17
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Bui, Thao Phuong, Nguyen, Khanh Ngoc, Flanagan, Sarah, Ellard, Sian, Craig, Maria, Nguyen, Dat Phu, Nguyen, Hoan Thi
Publicado no Ann Transl Med (2015)
“..., polyuria and 17 cases with diabetes keton acidosis with pH of 7.13±0.18, blood glucose of 34.8±10.0 mmoL/L...”Publicado no Ann Transl Med (2015)
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Obter o texto integral
Artigo
18
Por Dũng, Vũ Chí, Khánh, Nguyễn Ngọc, Thảo, Bùi Phương, Ngọc, Cấn Thị Bích, Đạt, Nguyễn Phú, Dung, Le Anh, Kon, Masafumi, Igarashi, Maki, Fukami, Maki
Publicado no Ann Transl Med (2015)
“...). The authors identified a likely genetic diagnosis in more than a third of cases, including 22.5% with a...”Publicado no Ann Transl Med (2015)
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Obter o texto integral
Artigo
19
Por Hang, Le Thi Thuy, Dung, Vu Chi, Tomatsu, Shunji, Yen, Nguyen Thi, Hung, Trinh Thanh, Ngoc, Can Thi Bich, Nguyen, Ngoc Khanh, Hwu, Wuh-Liang, Ki, Gu-Hwan, Yoo, Han-Wook
Publicado no Ann Transl Med (2015)
“...); and five novel one were identified in this study: c.166dup (p.D56Gfs*2); c.1124-1128dup (p.L377Gfs*10); c...”Publicado no Ann Transl Med (2015)
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Obter o texto integral
Artigo
20
Por Nguyen, Khanh Ngoc, Bui, Huong Thi, Vu, Dung Chi, Can, Ngoc Thi Bich, Bui, Thao Phuong, Nguyen, Mai Chi, Daut, Hung Viet, Dang, Tuan Anh, Yamaguchi, Seiji, Kim, Gu-Hwan, Yoo, Han Wook
Publicado no Ann Transl Med (2015)
“... transcarbamylase deficiency (OTC). Ten cases (two with argininosuccinic aciduria, five cases with citrullinemia...”Publicado no Ann Transl Med (2015)
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Artigo