A reappraisal of Gaucher disease-diagnosis and disease management algorithms.
A reappraisal of Gaucher disease-diagnosis and disease management algorithms.
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DOI：
10.1002/ajh.21888
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发表时间：
2011-01
影响因子：
12.8
通讯作者：
Massenkeil, Gero
中科院分区：
文献类型：
--
作者：
Mistry, Pramod K.;Cappellini, Maria Domenica;Lukina, Elena;Ozsan, Hayri;Pascual, Sara Mach;Rosenbaum, Hanna;Helena Solano, Maria;Spigelman, Zachary;Villarrubia, Jesus;Patricia Watman, Nora;Massenkeil, Gero
1型（非神经元病性）戈谢病是第一种开发有效酶替代疗法的溶酶体贮积症，它已成为治疗相关孤儿病的原型。目前戈谢病患者有四种治疗选择，然而，近25%的1型戈谢病患者由于症状发作后诊断延迟而无法及时获得治疗。通过酶试验诊断戈谢病是明确的，但罕见的疾病和非特异性和异质性的戈谢病症状可能会阻碍考虑这种疾病的鉴别诊断。为了帮助促进戈谢病多变表现的及时诊断和最佳管理，召开了一次共识会议，以开发戈谢病诊断和疾病管理的算法。
Type 1 (non neuronopathic) Gaucher disease was the first lysosomal storage disorder for which an effective enzyme replacement therapy was developed and it has become a prototype for treatments for related orphan diseases. There are currently four treatment options available to patients with Gaucher disease, nevertheless, almost 25% of type 1 Gaucher patients do not gain timely access to therapy because of delays in diagnosis after the onset of symptoms. Diagnosis of Gaucher disease by enzyme testing is unequivocal, but the rarity of the disease and non-specific and heterogeneous nature of Gaucher disease symptoms may impede consideration of this disease in the differential diagnosis. To help promote timely diagnosis and optimal management of the protean presentations of Gaucher disease, a consensus meeting was convened to develop algorithms for diagnosis and disease management for Gaucher disease.
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DOI：
10.1016/s0950-3536(97)80033-9
发表时间：
1997-12-01
期刊：
BAILLIERES CLINICAL HAEMATOLOGY
影响因子：
--
作者：
Cox, TM;Schofield, JP
通讯作者：
Schofield, JP
影响因子：
4.2
作者：
Amato, D;Stachiw, T;Rivard, GE
通讯作者：
Rivard, GE
影响因子：
4
作者：
Goker-Alpan, O;Hruska, KS;Sidransky, E
通讯作者：
Sidransky, E
影响因子：
3.4
作者：
Dunn, P;Kuo, MC;Sun, CF
通讯作者：
Sun, CF
影响因子：
4.2
作者：
Bultron, Gilberto;Kacena, Katherine;Pearson, Daniel;Boxer, Michael;Yang, Ruhua;Sathe, Swati;Pastores, Gregory;Mistry, Pramod K.
通讯作者：
Mistry, Pramod K.