日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

III型糖原贮积症:诊断、基因型、治疗、临床过程和预后

Sentner, Christiaan P; Hoogeveen, Irene J; Weinstein, David A; Santer, René; Murphy, Elaine; McKiernan, Patrick J; Steuerwald, Ulrike; Beauchamp, Nicholas J; Taybert, Joanna; Laforêt, Pascal; Petit, François M; Hubert, Aurélie; Labrune, Philippe; Smit, G Peter A; Derks, Terry G J

Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy.

肾脏葡萄糖-6磷酸酶的靶向缺失会导致肾病

Clar Julie, Gri Blandine, Calderaro Julien, Birling Marie-Christine, Hérault Yann, Smit G Peter A, Mithieux Gilles, Rajas Fabienne

In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes

变异型中链酰基辅酶A脱氢酶基因型的体外和体内后果

Touw, Catharina M L; Smit, G Peter A; Niezen-Koning, Klary E; Bosgraaf-de Boer, Conny; Gerding, Albert; Reijngoud, Dirk-Jan; Derks, Terry G J

Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

荷兰糖原贮积症III型患者的突变分析:新的基因型-表型关系和AGL基因中的五个新突变

Sentner, Christiaan P; Vos, Yvonne J; Niezen-Koning, Klary N; Mol, Bart; Smit, G Peter A

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

新生儿中链酰基辅酶A脱氢酶缺乏症筛查后残余酶活性风险分层:一项队列研究的数据

Touw, Catharina M L; Smit, G Peter A; de Vries, Maaike; de Klerk, Johannis B C; Bosch, Annet M; Visser, Gepke; Mulder, Margot F; Rubio-Gozalbo, M Estela; Elvers, Bert; Niezen-Koning, Klary E; Wanders, Ronald J A; Waterham, Hans R; Reijngoud, Dirk-Jan; Derks, Terry G J

Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient

糖原贮积症 IIIa 型患者因严重肥厚型心肌病引起的心力衰竭,经低热量、高蛋白饮食调整后逆转。

Sentner, Christiaan P; Caliskan, Kadir; Vletter, Wim B; Smit, G Peter A

Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition

I型糖原贮积症的肾功能、自然病程及ACE抑制剂的肾脏保护作用

Martens, Daniëlle H J; Rake, Jan Peter; Navis, Gerjan; Fidler, Vaclav; van Dael, Catharina M L; Smit, G Peter A

In memoriam Professor Dr. John Fernandes

谨此缅怀约翰·费尔南德斯教授博士

Hauri-Hohl, Annik; Baenziger, Oskar; Frey, Bernhard; Smit, G Peter A