Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Jia, Yan‐feng"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Infantile liver failure syndrome type 1 (ILFS1, OMIM #615,438), caused by leucyl-tRNA synthase 1 (LARS1, OMIM *151,350) deficiency, is a rare autosomal-recessive disorder. The clinical manifestations, molecular-genetic features, a
Externí odkaz:
https://doaj.org/article/76ec9ef960014e0bae8c2132648f0112
Publikováno v:
Geoderma, Vol 446, Iss , Pp 116895- (2024)
Connectivity has become an important indicator of the sediment transfer potential through sediment sources to catchment sinks. Connectivity plays a vital role in investigating the rate of soil erosion caused by runoff and sediment output across the w
Externí odkaz:
https://doaj.org/article/f6c83f4458474bffb546b69c7c7be1cf
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
DGUOK deficiency has primarily been associated with lethal hepatic failure with or without hypotonia, nystagmus, and psychomotor retardation, features typical of mitochondrial disease. A study in 3 Turkish children identified homozygosity for a varia
Externí odkaz:
https://doaj.org/article/41834ae28eb04311a73cd96645c9e522
Autor:
Guo-min Li, Yi-fan Li, Qiao-qian Zeng, Xiao-mei Zhang, Hai-mei Liu, Jia-yan Feng, Yu Shi, Bing-bing Wu, Hong Xu, Li Sun
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Lupus podocytopathy is a glomerular lesion in systemic lupus erythematosus (SLE) characterized by diffuse podocyte foot process effacement (FPE) without immune complex (IC) deposition or with only mesangial IC deposition. It is rarely seen in childre
Externí odkaz:
https://doaj.org/article/dac9dab191bb4544a69fa2e0db3f47e9
Autor:
Jia-Qi Li, Xin-Bao Xie, Jia-Yan Feng, Lian Chen, Kuerbanjiang Abuduxikuer, Yi Lu, Yu-Chuan Li, Jian-She Wang
Publikováno v:
BMC Gastroenterology, Vol 18, Iss 1, Pp 1-8 (2018)
Abstract Background Transient infantile hypertriglyceridemia (HTGTI) is an autosomal recessive disorder caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene. Case presentation We report a case of HTGTI in a Chinese female infan
Externí odkaz:
https://doaj.org/article/d298f99a9f264b1193dd8b4a9296bcbe
Autor:
Yanyan Qian, Xiaoshan Tang, Huijun Wang, Jia-Yan Feng, Jiaojiao Liu, Bingbing Wu, Xiaoyan Fang, Hong Xu, Yihui Zhai, Li Sun, Jing Chen, Fengfang Wei, Qian Shen, Linan Xu, Jialu Liu, Jia Rao, Haimei Liu
Publikováno v:
Transl Pediatr
BACKGROUND: Membranoproliferative glomerulonephritis (MPGN) is a rare histopathologic pattern of glomerular injury with limited studies in pediatric patients. Characteristics and outcomes of children with MPGN have also remained to be further explore
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22e65b1436bf3fb6a9214b9c376fa6f8
https://doi.org/10.21037/tp-21-286
https://doi.org/10.21037/tp-21-286
Publikováno v:
In Geomorphology 1 July 2013 193:57-64
Publikováno v:
In Ecological Engineering March 2013 52:28-36
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Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 33:1321-1333
Objectives The aim of our study is to systematically describe the genotypic and phenotypic spectrum of Glycogen storage disease type VI (GSD VI), especially in Chinses population. Methods We retrospectively analyzed ten Chinese children diagnosed as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21ff71a7f89b8f1b400128110d4c0bcb
https://doi.org/10.1515/jpem-2020-0173
https://doi.org/10.1515/jpem-2020-0173