Search Results

Association of non-insulin-based insulin resistance indices with disease severity and adverse outcome in idiopathic pulmonary arterial hypertension: a multi-center cohort study.

• Authors : Zhang S; Center for Respiratory and Pulmonary Vascular Diseases, National Center for Cardiovascular Diseases, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167, Beilishi Road, Beijing, 100037, Xicheng, China.; Gao L

Subjects: Biomarkers*/Biomarkers*/Biomarkers*/blood ; Blood Glucose*/Blood Glucose*/Blood Glucose*/metabolism ; Insulin Resistance*

• Source: Cardiovascular diabetology [Cardiovasc Diabetol] 2024 May 03; Vol. 23 (1), pp. 154. Date of Electronic Publication: 2024 May 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101147637 Publication Model: Electronic Cited Medium:

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Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.

• Authors : Cao Y; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, 100005, China.; You Y

Subjects: Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/genetics ; Rickets, Hypophosphatemic*/Rickets, Hypophosphatemic*/Rickets, Hypophosphatemic*/genetics; China

• Source: BMC medical genomics [BMC Med Genomics] 2022 Jul 16; Vol. 15 (1), pp. 161. Date of Electronic Publication: 2022 Jul 16.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium:

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Efficacy and safety of tafolecimab in Chinese patients with heterozygous familial hypercholesterolemia: a randomized, double-blind, placebo-controlled phase 3 trial (CREDIT-2).

• Authors : Chai, Meng¹ (AUTHOR); He, Yongming² (AUTHOR); Zhao, Wang³ (AUTHOR)

• Source: BMC Medicine. 2/28/2023, Vol. 21 Issue 1, p1-11. 11p.

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Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up.

• Authors : Li Y; Department of Endocrinology, Genetics and Metabolism, Fuzhou Children's Hospital of Fujian Medical University, No. 145, 817 Middle Road, Fuzhou, 350005, China.; Affiliated Dongfeng General Hospital of Hubei Medical College, Shiyan, 442008, China.

Subjects: 25-Hydroxyvitamin D3 1-alpha-Hydroxylase*/25-Hydroxyvitamin D3 1-alpha-Hydroxylase*/25-Hydroxyvitamin D3 1-alpha-Hydroxylase*/genetics ; Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/drug therapy ; Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/genetics

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Oct 01; Vol. 15 (1), pp. 273. Date of Electronic Publication: 2020 Oct 01.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Novel detection of mutation in the TECPR2 gene in a Chinese hereditary spastic paraplegia 49 patient: a case report.

• Authors : Guan, Yalin^1,2 (AUTHOR) ; Lu, Hui^1,2 (AUTHOR); Zuo, Wenchao^1,2 (AUTHOR)

• Source: BMC Neurology. 2/7/2022, Vol. 22 Issue 1, p1-7. 7p.

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Features of chinese patients with sitosterolemia.

• Authors : Zhou, Zhizi¹ (AUTHOR); Su, Xueying¹ (AUTHOR); Cai, Yanna¹ (AUTHOR)

Subjects: *CHINESE people; *PHYTOSTEROLS; *GLYCOGEN storage diseaseCHINA

• Source: Lipids in Health & Disease. 1/18/2022, Vol. 21 Issue 1, p1-10. 10p.

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Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines.

• Authors : Xu, Kexin; Li, Guozhuang; Wu, Zhihong

Subjects: EHLERS-Danlos syndrome; MEDICAL personnel; DIAGNOSISCHINA

• Source: Orphanet Journal of Rare Diseases; 5/13/2024, Vol. 19 Issue 1, p1-6, 6p

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The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis.

• Authors : Zhong, Linqing; Wang, Wei; Li, Ji

Subjects: JUVENILE idiopathic arthritis; MACROPHAGE activation syndrome; GENETIC mutationCHINA

• Source: Pediatric Rheumatology; 5/12/2020, Vol. 18 Issue 1, p1-9, 9p

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A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.

• Authors : Sun, Liying; Zhang, Qianwen; Li, Qun

Subjects: THYROID diseases; FETAL growth retardation; SHORT statureCHINA

• Source: BMC Medical Genetics; 10/31/2020, Vol. 21 Issue 1, pN.PAG-N.PAG, 1p

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High frequency of the TARDBP p.M337 V mutation among south-eastern Chinese patients with familial amyotrophic lateral sclerosis.

• Authors : Xu, Guo-rong¹ ; Hu, Wei¹ ; Zhan, Ling-Ling¹

• Source: BMC Neurology. 4/5/2018, Vol. 18, p1-1. 1p. 1 Diagram, 1 Chart.

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