Výsledky vyhledávání - "Jinqun Liang"

Akademický článek

Case Report: Successful Management of a 29-Day-Old Infant With Severe Hyperlipidemia From a Novel Homozygous Variant of GPIHBP1 Gene

Autor: Shu Liu, Zhiqing Wang, Xianhua Zheng, Ye Zhang, Sisi Wei, Haimei OuYang, Jinqun Liang, Nuan Chen, Weihong Zeng, Jianhui Jiang

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

BackgroundSevere hyperlipidemia is characterized by markedly elevated blood triglyceride levels and severe early-onset cardiovascular diseases, pancreatitis, pancreatic necrosis or persistent multiple organ failure if left untreated. It is a rare aut

Externí odkaz: https://doaj.org/article/43a5fa846ce94740bdb310118e87de4a

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Analysis of amino acids and acylcarnitines profiles in small, appropriate, and large for gestational age neonates

Autor: Shen Wen, Aihua Yin, Jing Wu, Jinqun Liang, Xiaomei Shi, Qian Liu, Tengzi Rao, Liyuan Fang

Publikováno v: The journal of maternal-fetalneonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 35(3)

To identify the amino acid (AA) and acylcarnitines (ACs) profiles in dry blood spot (DBS) of small, appropriate and large for gestational age neonates, and to investigate the difference AA and AC profiles in groups.Eight thousand nine hundred and fou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::980ced9e88fd075333860b5c7627a66e
https://pubmed.ncbi.nlm.nih.gov/32037923

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Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review

Autor: Shu Liu, Nuan Chen, Weihong Zeng, Haimei OuYang, Xunjie Xie, Sisi Wei, Zhiqing Wang, Jinqun Liang, Liying Chen, Jianhui Jiang

Publikováno v: Cytogenetic and Genome Research. 154:201-208

Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20db7deed22d6effbfddbc3c04ab040c
https://doi.org/10.1159/000488692

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Analysis of amino acids and acyl carnitine profiles in low birth weight, preterm, and small for gestational age neonates

Autor: Wen Shen, Qian Liu, Jianhui Jiang, Jing Wu, Ran Wei, Jinqun Liang, Mei Zhong, Aihua Yin, Min Chen

Publikováno v: The Journal of Maternal-Fetal & Neonatal Medicine. 30:2697-2704

To analyze the amino acids (AA) and acyl carnitine (AC) profiles in dry blood spot (DBS) specimens of low birth weight (LBW), preterm birth (PTB), and small for gestational age (SGA), and to compare the concentration difference of AA and AC with thos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b46d07a36effbf240b0946ef3c565a
https://doi.org/10.1080/14767058.2016.1261395

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Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics

Autor: Shu Liu, Zhiqing Wang, Weihong Zeng, Sisi Wei, Jianhui Jiang, Qingshan Hong, Xianqiong Luo, Jinqun Liang, Ye Zhang, Haimei OuYang, Nuan Chen

Publikováno v: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]. 20(3)

Johanson–Blizzard Syndrome (JBS) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, distinct abnormal facial appearance and varying degrees of growth retardation. Variants in UBR1 gene are considered

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c93415a5e022fbdba0fc306057b99fc6
https://pubmed.ncbi.nlm.nih.gov/31980351

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Severe forms of complete androgen insensitivity syndrome caused by a p.Q65X novel mutation in androgen receptor: Clinical manifestations, imaging findings and molecular genetics

Autor: Liying Chen, Xunjie Xie, Shu Liu, Jianhui Jiang, Weihong Zeng, Sisi Wei, Haimei OuYang, Nuan Chen, Jinqun Liang, Zhiqing Wang

Publikováno v: Steroids. 144

Androgen insensitivity syndrome (AIS), a rare X-linked recessive genetic disorder with a normal 46, XY karyotype, is caused by defect of androgen receptor gene (AR) leading to resistance of the target tissues to androgenic hormones. There is a wide s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f0a2e55c206210a74ff6baa010b3e52
https://pubmed.ncbi.nlm.nih.gov/30742848

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Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report

Autor: Jinqun Liang, Haimei OuYang, Weihong Zeng, Nuan Chen, Liying Chen, Xunjie Xie, Zhiqing Wang, Jianhui Jiang, Shu Liu

Publikováno v: Archivos argentinos de pediatria. 115(4)

Nonketotic hyperglycinemia is an extremely rare autosomal recessively inherited glycine encephalopathy caused by a deficiency in the mitochondrial glycine cleavage system, which leads to severe clinical symptoms. Nonketotic hyperglycinemia is charact

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07a946c62706ec4663e18e932dcc0750
https://pubmed.ncbi.nlm.nih.gov/28737873

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