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

[A case for the inclusion of oculocutaneous albinism as a skin-related Neglected Tropical Disease]

[将眼皮肤白化病纳入被忽视的热带病(皮肤相关疾病)的论证]

Aquaron, Robert; Lund, Patricia; Baker, Charlotte

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy

在99名尿黑酸症患者中发现了12种新的HGD基因变异:重点关注意大利的“黑骨病”

Nemethova, Martina; Radvanszky, Jan; Kadasi, Ludevit; Ascher, David B; Pires, Douglas E V; Blundell, Tom L; Porfirio, Berardino; Mannoni, Alessandro; Santucci, Annalisa; Milucci, Lia; Sestini, Silvia; Biolcati, Gianfranco; Sorge, Fiammetta; Aurizi, Caterina; Aquaron, Robert; Alsbou, Mohammed; Lourenço, Charles Marques; Ramadevi, Kanakasabapathi; Ranganath, Lakshminarayan R; Gallagher, James A; van Kan, Christa; Hall, Anthony K; Olsson, Birgitta; Sireau, Nicolas; Ayoob, Hana; Timmis, Oliver G; Sang, Kim-Hanh Le Quan; Genovese, Federica; Imrich, Richard; Rovensky, Jozef; Srinivasaraghavan, Rangan; Bharadwaj, Shruthi K; Spiegel, Ronen; Zatkova, Andrea

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database

在尿黑酸症患者中鉴定出11种新的尿黑酸1,2-双加氧酶变体,并建立了一个基于LOVD的新型HGD突变数据库。

Zatkova, Andrea; Sedlackova, Tatiana; Radvansky, Jan; Polakova, Helena; Nemethova, Martina; Aquaron, Robert; Dursun, Ismail; Usher, Jeannette L; Kadasi, Ludevit

Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO)

对尿黑酸症 (AKU) 突变和多态性的分析表明,CCC 序列基序是尿黑酸 1,2-双加氧酶基因 (HGO) 中的突变热点。

Beltrán-Valero de Bernabé, D; Jimenez, F J; Aquaron, R; Rodríguez de Córdoba, S

Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients

对尿黑酸症患者人尿黑酸1,2-双加氧酶基因的突变和多态性分析

Beltrán-Valero de Bernabé, D; Granadino, B; Chiarelli, I; Porfirio, B; Mayatepek, E; Aquaron, R; Moore, M M; Festen, J J; Sanmartí, R; Peñalva, M A; de Córdoba, S R

Serum caeruloplasmin in rheumatology

血清铜蓝蛋白在风湿病学中的应用

Roux, H; Aquaron, R; Grangier, R; Recordier, A M