AUTOSOMAL DOMINANT HYPOCALCEMIA. WHEN BARTTER SYNDROME "PUSHES BOUNDARIES"

被引：0
|
作者：
Jimenez Moreno, Marta [1 ]
Arango Sancho, Pedro [1 ]
Aguilar Rodriguez, Ana Cristina [1 ]
Jimenez Garcia, Raquel [1 ]
Codina Sampera, Elena [1 ]
Calzada Banos, Yolanda [1 ]
Madrid Aris, Alvaro [1 ]
机构：
[1] Hosp St Joan Deu, Barcelona, Spain
来源：
PEDIATRIC NEPHROLOGY | 2022年 / 37卷 / 11期
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：
PI-92
引用
收藏
页码：2855 / 2856
页数：2
相关论文
共 50 条
  • [21] PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1
    Abu-Raddad, Laith J.
    Chemaitelly, Hiam
    Butt, Adeel A.
    NEW ENGLAND JOURNAL OF MEDICINE, 2021, 385 (02): : 189 - 190
  • [22] CASRdb, calcium sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism and autosomal dominant hypocalcemia.
    Pidasheva, S
    D'Souza-Li, L
    Cole, DEC
    Hendy, GN
    JOURNAL OF BONE AND MINERAL RESEARCH, 2002, 17 : S494 - S494
  • [23] Seizures due to Autosomal Dominant Hypocalcemia-Type 1
    Raha, Soumya Jyoti
    Banerjee, Sayan
    Bala, Anju
    Yadav, Jaivinder
    INDIAN JOURNAL OF PEDIATRICS, 2025, : 563 - 563
  • [24] Activating mutations of the calcium-sensing receptor: The calcilytics ATF-936 and AXT-914 attenuate mutants causing autosomal dominant hypocalcemia and Bartter syndrome type 5
    Letz, S.
    Haag, C.
    Schulze, E.
    Frank-Raue, K.
    Mayr, B.
    Raue, F.
    Schoefl, C.
    EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 2013, 121 (03)
  • [25] Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus
    Brugnara, Milena
    Gaudino, Rossella
    Tedeschi, Silvana
    Syren, Marie-Louise
    Perrotta, Silverio
    Maines, Evelina
    Zaffanello, Marco
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2014, 27 (9-10): : 971 - 975
  • [26] IS SHWACHMAN SYNDROME AUTOSOMAL DOMINANT
    SUTHERS, GK
    BAUR, LA
    GASKIN, KJ
    AUSTRALIAN PAEDIATRIC JOURNAL, 1988, 24 (01): : 90 - 90
  • [27] AUTOSOMAL DOMINANT GOLDENHAR SYNDROME
    GODEL, V
    REGENBOGEN, L
    GOYA, V
    GOODMAN, RM
    BIRTH DEFECTS-ORIGINAL ARTICLE SERIES, 1982, 18 (06) : 621 - 628
  • [28] CASR gene activating mutations in two families with autosomal dominant hypocalcemia
    Guarnieri, Vito
    D'Elia, Angela Valentina
    Baorda, Filomena
    Pazienza, Valerio
    Benegiamo, Giorgia
    Stanziale, Pietro
    Copetti, Massimiliano
    Battista, Claudia
    Grimaldi, Franco
    Damante, Giuseppe
    Pellegrini, Fabio
    D'Agruma, Leonardo
    Zelante, Leopoldo
    Carella, Massimo
    Scillitani, Alfredo
    MOLECULAR GENETICS AND METABOLISM, 2012, 107 (03) : 548 - 552
  • [29] Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome: A Family Report
    London, Shira
    Levine, Michael A.
    Li, Dong
    Spiegel, Ronen
    Lebel, Asaf
    Halevy, Rephael
    Tenenbaum-Rakover, Yardena
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2022, 107 (04): : E1679 - E1688
  • [30] Familial hypocaliuric hypercalcemia, neonatal severe hyperparathyroidism and autosomal dominant hypocalcemia
    Baumgartner-Parzer S.
    Journal für Klinische Endokrinologie und Stoffwechsel, 2018, 11 (2): : 51 - 55
12345