MOLECULAR FINDINGS IN A GROUP OF PATIENTS WITH PRIMARY HYPOMAGNESEMIA AND SALT-LOSING TUBULOPATHY

被引：0
|
作者：
Madariaga Dominguez, Leyre [1 ]
Garcia-Castano, Alejandro [1 ]
Gondra Sangroniz, Leire [2 ]
Herrero Goni, Maria [3 ]
Aguirre Menica, Mireia [3 ]
Gomez-Conde, Sara [4 ]
机构：
[1] Univ Basque Country, Cruces Univ Hosp, IIS Biocruces Bizkaia, CIBERDEM,CIBERER,EndoERN, Bilbao, Spain
[2] Univ Basque Country, Cruces Univ Hosp, IIS Biocruces Bizkaia, Bilbao, Spain
[3] Cruces Univ Hosp, IIS Biocruces Bizkaia, Baracaldo, Spain
[4] Univ Basque Country, IIS Biocruces Bizkaia, Bilbao, Spain
来源：
PEDIATRIC NEPHROLOGY | 2023年 / 38卷
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Sa-3MP 084
引用
收藏
页码：S94 / S94
页数：1
相关论文
共 49 条
  • [31] Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia
    Lin, Lin
    Hindmarsh, Peter C.
    Metherell, Louise A.
    Alzyoud, Mahmoud
    Al-Ali, Maryam
    Brain, Caroline E.
    Clark, Adrian J. L.
    Dattani, Mehul T.
    Achermann, John C.
    CLINICAL ENDOCRINOLOGY, 2007, 66 (02) : 205 - 210
  • [32] NEW HEREDITARY DEFECT IN BIOSYNTHESIS OF ALDOSTERONE - URINARY C21-CORTICOSTEROID PATTERN IN 3 RELATED PATIENTS WITH SALT-LOSING SYNDROME SUGGESTING 18-OXIDATION DEFECT
    VISSER, HKA
    COST, WS
    ACTA ENDOCRINOLOGICA, 1964, 47 (04): : 589 - &
  • [33] Aldosterone production despite absence or defectiveness of the CYP21 genes in two patients with salt-losing congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency
    Koppens, PFJ
    Hoogenboezem, T
    Drop, SLS
    de Muinck, SMPF
    Keizer-Schrama
    Degenhart, HJ
    CLINICAL ENDOCRINOLOGY, 1998, 49 (06) : 815 - 822
  • [34] PLASMA ALDOSTERONE, RENIN-ACTIVITY, AND 17ALPHA-HYDROXYPROGESTERONE IN SALT-LOSING CONGENITAL ADRENAL-HYPERPLASIA .1. RESPONSE TO ACTH IN HYDROCORTISONE TREATED PATIENTS AND EFFECT OF 9ALPHA-FLUOROCORTISOL
    LIMAL, JM
    RAPPAPORT, R
    BAYARD, F
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1977, 45 (03): : 551 - 559
  • [35] Molecular Findings in Primary CNS Tumors Identified by Next-Generation Sequencing in Mexican Patients
    Gomez, Jorge A.
    Sanchez Sosa, Sergio
    Mastrascusa, Laura C.
    Montilla Fonseca, Silvia
    Mendoza Torres, Luis A.
    Cuauro Ruiz, Gabriela C.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2024, 26 (06): : S43 - S44
  • [36] Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies
    Beck, Bodo B.
    Baasner, Anne
    Buescher, Anja
    Habbig, Sandra
    Reintjes, Nadine
    Kemper, Markus J.
    Sikora, Przemyslaw
    Mache, Christoph
    Pohl, Martin
    Stahl, Mirjam
    Toenshoff, Burkhard
    Pape, Lars
    Fehrenbach, Henry
    Jacob, Dorrit E.
    Grohe, Bernd
    Wolf, Matthias T.
    Nuernberg, Gudrun
    Yigit, Goekhan
    Salido, Eduardo C.
    Hoppe, Bernd
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (02) : 162 - 172
  • [37] Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies
    Bodo B Beck
    Anne Baasner
    Anja Buescher
    Sandra Habbig
    Nadine Reintjes
    Markus J Kemper
    Przemyslaw Sikora
    Christoph Mache
    Martin Pohl
    Mirjam Stahl
    Burkhard Toenshoff
    Lars Pape
    Henry Fehrenbach
    Dorrit E Jacob
    Bernd Grohe
    Matthias T Wolf
    Gudrun Nürnberg
    Gökhan Yigit
    Eduardo C Salido
    Bernd Hoppe
    European Journal of Human Genetics, 2013, 21 : 162 - 172
  • [38] Molecular Characterization of Genes Mutated in Patients with Primary Immunodeficiency Diseases (PIDS) at the Group of Primary Immunodeficiencies in Colombia 2015: An Update
    Andres Arango, Carlos
    Augusto Arias, Andres
    Luis Franco, Jose
    Cesar Orrego, Julio
    Lineth Rojas, Jessica
    Alvaro Lopez, Juan
    Javier Patino, Pablo
    Moncada-Velez, Marcela
    Jaime Velez, Gabriel
    Grimbacher, Bodo
    Woellner, Cristina
    Danielian, Silvia
    Rosenzweig, Sergio
    Walter, Jolan E.
    Candotti, Fabio
    Picard, Capucine
    Bustamante, Jacinta
    Casanova, Jean Laurent
    Germeshausen, Manuela
    Hershfield, Michael
    Maria Eraso, Ruth
    Pilar Sanchez, Isaura
    Milena Trujillo-Vargas, Claudia
    Natalia Builes, Luz
    Armando Alvarez, Jesus
    JOURNAL OF CLINICAL IMMUNOLOGY, 2015, 35 : S23 - S23
  • [39] Molecular Mechanisms of Primary Resistance to Azacitidine in MDS/AML Patients - Data of the Hellenic MDS Study Group
    Mpakou, Vassiliki
    Spathis, Aris
    Bouhla, Anthi
    Kontsioti, Frieda
    Tsakiraki, Zoi
    Papageorgiou, Sotirios
    Mpazani, Efthimia
    Glezou, Irene
    Gkodopoulos, Konstantinos
    Stavroulaki, Georgia
    Galanopoulos, Athanasios
    Symeonidis, Argiris
    Viniou, Nora-Athina
    Zafeiropoulou, Kalliopi
    Kotsianidis, Ioannis
    Foukas, Periklis
    Pappa, Vassiliki
    BLOOD, 2019, 134
  • [40] Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel Molecular and Clinical Findings in Italian Patients
    Boaretto, Francesca
    Snijders, Deborah
    Salvoro, Cecilia
    Spalletta, Ambra
    Mostacciuolo, Maria Luisa
    Collura, Mirella
    Cazzato, Salvatore
    Girosi, DonateLla
    Silvestri, Michela
    Rossi, Giovanni Arturo
    Barbato, Angelo
    Vazza, Giovanni
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2016, 18 (06): : 912 - 922
12345