Works matching IS 17088569 AND DT 2023 AND VI 19 AND IP 7

Results: 10

Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China.

Published in:

World Journal of Pediatrics, 2023, v. 19, n. 7, p. 687, doi. 10.1007/s12519-023-00729-3

By:

Zhang, Yue;
Liu, Wei;
Shu, Zhou;
Li, Yan;
Sun, Fei;
Li, Zhi-Gang;
Han, Tong-Xin;
Mao, Hua-Wei;
Wang, Tian-You

Publication type:

Article

Response to "Incidence and severity of pediatric appendicitis during the COVID‑19 pandemic".

Published in:

World Journal of Pediatrics, 2023, v. 19, n. 7, p. 713, doi. 10.1007/s12519-023-00713-x

By:

del Giorgio, Francesca;
Gravel, Jocelyn;
Piché, Nelson;
Drouin, Olivier

Publication type:

Article

Incidence and severity of pediatric appendicitis during the COVID‑19 pandemic.

Published in:

World Journal of Pediatrics, 2023, v. 19, n. 7, p. 710, doi. 10.1007/s12519-023-00712-y

By:

Quaglietta, Paula Rosanna;
Baertschiger, Reto M.

Publication type:

Article

Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.

Published in:

World Journal of Pediatrics, 2023, v. 19, n. 7, p. 644, doi. 10.1007/s12519-023-00686-x

By:

Xiao, Jun;
Hao, Lu-Wen;
Wang, Jing;
Yu, Xiao-Si;
You, Jing-Yi;
Li, Ze-Jian;
Mao, Han-Dan;
Meng, Xin-Yao;
Feng, Jie-Xiong

Publication type:

Article

Inherited Fanconi syndrome.

Published in:

World Journal of Pediatrics, 2023, v. 19, n. 7, p. 619, doi. 10.1007/s12519-023-00685-y

By:

Albuquerque, Anna Luiza Braga;
dos Santos Borges, Rafael;
Conegundes, Ana Flávia;
dos Santos, Erika Emmylaine;
Fu, Frederico Moreira Man;
Araujo, Clara Tavares;
Vaz de Castro, Pedro Alves Soares;
Simões e Silva, Ana Cristina

Publication type:

Article

Clinical spectrum and currently available treatment of type I interferonopathy Aicardi–Goutières syndrome.

Published in:

World Journal of Pediatrics, 2023, v. 19, n. 7, p. 635, doi. 10.1007/s12519-022-00679-2

By:

Dell'Isola, Giovanni Battista;
Dini, Gianluca;
Culpepper, Kaleb Logan;
Portwood, Katherin Elizabeth;
Ferrara, Pietro;
Di Cara, Giuseppe;
Verrotti, Alberto;
Lodolo, Mauro

Publication type:

Article

Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome.

Published in:

World Journal of Pediatrics, 2023, v. 19, n. 7, p. 652, doi. 10.1007/s12519-022-00676-5

By:

Wang, Meng-Xuan;
Han, Jun;
Liu, Teng;
Wang, Ren-Xue;
Li, Li-Ting;
Li, Zhong-Die;
Yang, Jun-Cong;
Liu, Lang-Li;
Lu, Yi;
Xie, Xin-Bao;
Gong, Jing-Yu;
Li, Shi-Yu;
Zhang, Lei;
Ling, Victor;
Wang, Jian-She

Publication type:

Article

Australian children living with rare diseases: health service use and barriers to accessing care.

Published in:

World Journal of Pediatrics, 2023, v. 19, n. 7, p. 701, doi. 10.1007/s12519-022-00675-6

By:

Teutsch, Suzy;
Zurynski, Yvonne;
Eslick, Guy D.;
Deverell, Marie;
Christodoulou, John;
Leonard, Helen;
Dalkeith, Troy;
Johnson, Sandra L. J.;
Elliott, Elizabeth J.

Publication type:

Article

Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype–phenotype analysis of 105 patients.

Published in:

World Journal of Pediatrics, 2023, v. 19, n. 7, p. 674, doi. 10.1007/s12519-022-00674-7

By:

Wang, Wei;
Gao, Si-Hao;
Wei, Min;
Zhong, Lin-Qing;
Liu, Wei;
Jian, Shan;
Xiao, Juan;
Zhang, Cai-Hui;
Zhang, Jian-Guo;
Zeng, Xiao-Feng;
Xia, Wei-Bo;
Qiu, Zheng-Qing;
Song, Hong-Mei

Publication type:

Article

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.

Published in:

World Journal of Pediatrics, 2023, v. 19, n. 7, p. 663, doi. 10.1007/s12519-022-00670-x

By:

Yang, Ru-Lai;
Qian, Gu-Ling;
Wu, Ding-Wen;
Miao, Jing-Kun;
Yang, Xue;
Wu, Ben-Qing;
Yan, Ya-Qiong;
Li, Hai-Bo;
Mao, Xin-Mei;
He, Jun;
Shen, Huan;
Zou, Hui;
Xue, Shu-Yuan;
Li, Xiao-Ze;
Niu, Ting-Ting;
Xiao, Rui;
Zhao, Zheng-Yan

Publication type:

Article