Diagnostic dilemma and delay in Fabry disease: Insights from a case series of young female patients

Ellaway Carolyn

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Diagnostic dilemma and delay in Fabry disease: Insights from a case series of young female patients

机译：法布里病的诊断困境和延误：一系列年轻女性患者的见解

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《Journal of paediatrics and child health》 |2015年第4期|共4页
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Ellaway Carolyn;
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1. Diagnostic dilemma and delay in Fabry disease: Insights from a case series of young female patients [J] . Ellaway Carolyn Journal of paediatrics and child health . 2015,第4期

机译：法布里病的诊断困境和延误：一系列年轻女性患者的见解
2. Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance [J] . Smid B. E., Hollak C. E. M., Poorthuis B. J. H. M., Clinical Genetics: An International Journal of Genetics in Medicine . 2015,第2期

机译：法布里病诊断难题：临床意义未知的GLA突变病例系列研究
3. Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" alpha-galactosidase a large deletion. [J] . Feldt Rasmussen U, Dobrovolny R, Nazarenko I, Molecular genetics and metabolism . 2011,第3期

机译：诊断难题：一名年轻女子，患有法布里氏病症状，无家族史，且“测序隐秘”α-半乳糖苷酶大量缺失。
4. Serum diagnostics and clinical value of anti-thyroid autoantibodies of different specificity and functionality in patients with autoimmune thyroid diseases and their relatives as disease predictors [C] . Andreeva A.V., Bogatyreva Z.I., Isaeva M.A., World Asthma and COPD Forum . 2010

机译：自身免疫甲状腺疾病患者及其亲属作为疾病预测因子的患者抗甲状腺自身抗体的抗甲状腺自身抗体的临床价值
5. The implications of molecular diagnostics in clinicopathologic correlations in two disease processes: PSA serum levels in acute illnesses, and, prevalence of activated protein C resistance and factor V mutation in patients with thrombosis and in control patients by ethnic group. [D] . Honda, Stacey Ann Akemi. 2002

机译：分子诊断在两种疾病过程中的临床病理相关性中的意义：急性疾病中PSA血清水平，以及血栓形成患者和对照患者（按种族）的活化蛋白C抗性和因子V突变的患病率。
6. Diverse phenotypic expression associated with the same genetic variant in female heterozygote patients of Anderson–Fabry disease: a case series [O] . Daisuke Tomioka, Koichi Kato, Tomoya Ozawa, 2021

机译：雌性杂合子患者同一遗传变异相关的多种表型表达：案例系列
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Diagnostic dilemma and delay in Fabry disease: Insights from a case series of young female patients

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