Stephen E Langabeer
Stephen E Langabeer
Editorial
EJIFCC. 2017 Mar 8;28(1):92-93. DOI: 2017
Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report [0.03%]
ABCC8基因新发突变所致先天性高胰岛素血症一例报告
Zsuzsanna Molnár,Lfdia Balogh,János Kappelmayer et al.
Zsuzsanna Molnár et al.
Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal rec...
Case Reports
EJIFCC. 2017 Mar 8;28(1):85-91. DOI: 2017
Pediatric Reference Intervals for Transferrin Saturation in the CALIPER Cohort of Healthy Children and Adolescents [0.03%]
CALIPER队列健康儿童和青少年转铁蛋白饱和度的儿科参考区间
Victoria Higgins,Man Khun Chan,Khosrow Adeli
Victoria Higgins
Background: Transferrin saturation reference intervals specific for age and sex have not been previously reported for the pediatric population. The reference values for transferrin saturation have been previously reported...
The Utility of CSF for the Diagnosis of Primary and Secondary Monoamine Neurotransmitter Deficiencies [0.03%]
脑脊液在原发性和继发性单胺神经递质缺乏诊断中的应用价值
A B Burlina,A Celato,G Polo et al.
A B Burlina et al.
Biogenic amine defects constitute a complex and expanding group of neurotransmitter disorders affecting cognitive, motor and autonomic system development, mostly in the pediatric age. In recent years different enzymatic defects have been id...
Pediatric Reference Intervals for Biochemical Markers: Gaps and Challenges, Recent National Initiatives and Future Perspectives [0.03%]
生物化学标志物的儿科参考区间：缺口和挑战，最近的国家倡议和未来展望
Houman Tahmasebi,Victoria Higgins,Angela W S Fung et al.
Houman Tahmasebi et al.
Reference intervals provide valuable information to medical practitioners in their interpretation of quantitative laboratory test results, and are critical in the assessment of patient health and in clinical decision-making. The reference i...
Pediatric Metabolic Syndrome: Pathophysiology and Laboratory Assessment [0.03%]
儿童代谢综合征：发病机制与实验室检查评估
Victoria Higgins,Khosrow Adeli
Victoria Higgins
Pediatric overweight and obesity is an emerging public health priority as rates have rapidly increased worldwide. Obesity is often clustered with other metabolic abnormalities including hypertension, dyslipidemia, and insulin resistance, le...
Pediatric Obesity and Cardiometabolic Disorders: Risk Factors and Biomarkers [0.03%]
儿童肥胖与心血管代謝性疾病：危险因素及生物标志物
E Levy,A K Saenger,M W Steffes et al.
E Levy et al.
Obesity remains the most prevailing disorder in childhood males and females worldwide. Its high prevalence markedly predisposes children to insulin resistance, hypertension, hyperlipidemia and liver disorders while enhancing the risk of typ...
Editorial
EJIFCC. 2017 Mar 8;28(1):4-5. DOI: 2017
Successful ISO 15189 Accreditation in the Bethzatha Advanced Medical Laboratory in Ethiopia [0.03%]
埃塞俄比亚Bethzatha高级医学实验室ISO 15189认证成功
Nardos Abebe
Nardos Abebe