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

Clinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman Syndrome

吉特曼综合征的临床特征、症状和长期预后

Wieërs, Michiel L A J; Allard, Lise; D'Ambrosio, Viola; Arango-Sancho, Pedro; de Baaij, Jeroen H F; Becherucci, Francesca; Bertholet-Thomas, Aurelia; Besouw, Martine; Blanchard, Anne; Cacciapuoti, Martina; Carbone, Vincenza; Cornelissen, Elisabeth A; Daffara, Federico; Degenhardt, Jan; Devuyst, Olivier; Dorresteijn, Eiske; Evans, Rhys; Figueres, Lucile; Fila, Marc; Giliberti, Marica; Gillion, Valentine; Haumann, Sophie; Hawkins-van der Cingel, Gerlineke; Houillier, Pascal; Hureaux, Marguerite; Knauf, Felix; Knebelmann, Bertrand; Konrad, Martin; Kwon, Theresa; Lemoine, Sandrine; Longo, Germana; Nijenhuis, Tom; Engberink, Rik H G Olde; Duro, Hector Ríos; Saadé, Chloé; Sayer, John A; Schlingmann, Karl-Peter; Simon, Thomas; Speeckaert, Marijn M; Tan, Hai Liang; Trepiccione, Francesco; Vargas-Poussou, Rosa; Veligratti, Faidra; Walsh, Stephen B; Salih, Mahdi; Imenez Silva, Pedro H; Hoorn, Ewout J

Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives

常染色体显性遗传性肾脏低镁血症中的新型RRAGD变异及其治疗前景

Adella, Anastasia; Jouret, François; Madariaga, Leire; Leermakers, Pieter A; Arango, Pedro; Ariceta, Gema; Beck, Bodo B; Bjerre, Anna; Bockenhauer, Detlef; Coccia, Paula; Dhamija, Radhika; de Frutos, Fernando; Garcia-Castano, Alejandro; van Katwijk, Sara B; Lucas, Jesus; Möller, Thomas; Müller, Dominik; Pinto E Vairo, Filippo; Raki, Melinda; Rips, Jonathan; Schlingmann, Karl Peter; Venselaar, Hanka; Machado Bressan Wilke, Matheus Vernet; Nijenhuis, Tom; Hoenderop, Joost; de Baaij, Jeroen

Office Blood Pressure and Obesity in Children with X-Linked Hypophosphatemia

X连锁低磷血症患儿的诊室血压和肥胖

Böckmann, Ineke; Leifheit-Nestler, Maren; Rehberg, Mirko; Spartà, Giuseppina; Evers, Katrina; Schlingmann, Karl Peter; Kemper, Markus J; Richter-Unruh, Annette; Hiort, Olaf; Grohmann-Held, Karina; Derichs, Ute; Freiberg, Clemens; Weitz, Marcus; Dunstheimer, Desiree; Schmid, Elmar; John-Kroegel, Ulrike; Metzing, Oliver; Heger, Sabine; Jorch, Norbert; Staude, Hagen; Patzer, Ludwig; Wühl, Elke; Zivicnjak, Miroslav; Schnabel, Dirk; Haffner, Dieter

Growth dynamics of transversal body dimensions and proportions, with related clinical determinants in children with X-linked hypophosphatemia treated with phosphate supplements and active vitamin D

X连锁低磷血症患儿接受磷酸盐补充剂和活性维生素D治疗后,横向体型和比例的生长动态及其相关临床决定因素

Brieger, Laura Celine; Przygodda, Stephan; Bohlen, Alina Verena; Rehberg, Mirko; Konrad, Martin; Schlingmann, Karl Peter; Hiort, Olaf; Schmidt, Dorothee; John-Kroegel, Ulrike; Wuehl, Elke; Kemper, Markus Josef; Derichs, Ute; Patzer, Ludwig; Albers, Norbert; Dunstheimer, Desiree; Heger, Sabine; Grohmann-Held, Karina; Schroeder, Carmen; Jorch, Norbert; Schmid, Elmar; Staude, Hagen; Weitz, Marcus; Freiberg, Clemens; Huebner, Angela; Heitmeyer-Pyper, Anke; Sparta, Giuseppina; Partsch, Carl-Joachim; Marx, Michaela; Land, Christof; Baus, Inka; Wilkening, Frauke; Moeller, Kristina; Simic-Schleicher, Gunter; Empting, Susann; Metzing, Oliver; Wagner, Verena; Holder, Martin; Žebec, Mislav Stjepan; Schnabel, Dirk; Haffner, Dieter; Zivicnjak, Miroslav

Health-related quality of life of children with X-linked hypophosphatemia in Germany

德国患有X连锁低磷血症的儿童的健康相关生活质量

Klein, Martin; Obermaier, Michael; Mutze, Helena; Wilden, Sophia Maria; Rehberg, Mirko; Schlingmann, Karl Peter; Schmidt, Dorothee; Metzing, Oliver; Hübner, Angela; Richter-Unruh, Anette; Kemper, Markus J; Weitz, Marcus; Wühl, Elke; Jorch, Norbert; Patzer, Ludwig; Freiberg, Clemens; Heger, Sabine; Ziviknjak, Miroslav; Schnabel, Dirk; Haffner, Dieter

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome

长读长测序鉴定吉特曼综合征中新的致病性内含子变异

Viering, Daan H H M; Hureaux, Marguerite; Neveling, Kornelia; Latta, Femke; Kwint, Michael; Blanchard, Anne; Konrad, Martin; Bindels, René J M; Schlingmann, Karl-Peter; Vargas-Poussou, Rosa; de Baaij, Jeroen H F

Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome

扩展肯尼-卡菲综合征的表型谱

Schigt, Heidi; Bald, Martin; van der Eerden, Bram C J; Gal, Lars; Ilenwabor, Barnabas P; Konrad, Martin; Levine, Michael A; Li, Dong; Mache, Christoph J; Mackin, Sharon; Perry, Colin; Rios, Francisco J; Schlingmann, Karl Peter; Storey, Ben; Trapp, Christine M; Verkerk, Annemieke J M H; Zillikens, M Carola; Touyz, Rhian M; Hoorn, Ewout J; Hoenderop, Joost G J; de Baaij, Jeroen H F

Withdrawn as duplicate: Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review

已撤回(重复):扩展肯尼-卡菲综合征的表型谱:病例系列和系统性文献综述

Schigt, Heidi; Bald, Martin; van der Eerden, Bram C J; Gal, Lars; Ilenwabor, Barnabas P; Konrad, Martin; Levine, Michael A; Li, Dong; Mache, Christoph J; Mackin, Sharon; Perry, Colin; Rios, Francisco J; Schlingmann, Karl Peter; Storey, Ben; Trapp, Christine M; Verkerk, Annemieke J M H; Zillikens, M Carola; Touyz, Rhian M; Hoorn, Ewout J; Hoenderop, Joost G J; de Baaij, Jeroen H F

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

对 383 例经基因分型的肾痨患者进行肾脏存活率优化

König, Jens Christian; Karsay, Rebeka; Gerß, Joachim; Schlingmann, Karl-Peter; Dahmer-Heath, Mareike; Telgmann, Anna-Katharina; Kollmann, Sabine; Ariceta, Gema; Gillion, Valentine; Bockenhauer, Detlef; Bertholet-Thomas, Aurélia; Mastrangelo, Antonio; Boyer, Olivia; Lilien, Marc; Decramer, Stéphane; Schanstra, Joost P; Pohl, Martin; Schild, Raphael; Weber, Stefanie; Hoefele, Julia; Drube, Jens; Cetiner, Metin; Hansen, Matthias; Thumfart, Julia; Tönshoff, Burkhard; Habbig, Sandra; Liebau, Max Christoph; Bald, Martin; Bergmann, Carsten; Pennekamp, Petra; Konrad, Martin

Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis

在婴儿肾病胱氨酸病中,出生后前两个月开始口服半胱胺治疗对肾小球和肾小管功能的有益作用

Hohenfellner, Katharina; Nießl, Christina; Haffner, Dieter; Oh, Jun; Okorn, Christine; Palm, Katja; Schlingmann, Karl-Peter; Wygoda, Simone; Gahl, William Allen