Literature DB >> 29460158

Uncommon cribfellows: an infant with hypercalcemia, nephrocalcinosis, and acidosis: Answers.

Abdulla M Ehlayel1, Lawrence Copelovitch2,3.   

Abstract

Entities:  

Keywords:  Distal renal tubular acidosis; Hypercalcemia; Nephrocalcinosis

Mesh：

Substances：

Year:  2018        PMID： 29460158     DOI： 10.1007/s00467-018-3912-8

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  10 in total

1.  Hypercalcemia in neonatal distal renal tubular acidosis.

Authors:  J Rodríguez-Soriano; M García-Fuentes; A Vallo; J L Alvárez-Granda
Journal:  Pediatr Nephrol       Date:  2000-04       Impact factor: 3.714

2.  Distal renal tubular acidosis associated with hypercalcemia and nephrocalcinosis in an infant.

Authors:  Kenichi Maruyama; Makoto Shinohara; Shinitsu Hatakeyama; Kazumichi Onigata
Journal:  Pediatr Nephrol       Date:  2002-11       Impact factor: 3.714

3.  Hypercalcemia and distal renal tubular acidosis: an association not only in the newborn.

Authors:  Ivana Pela; Daniela Seracini; Giancarlo Lavoratti; Marco Materassi
Journal:  Pediatr Nephrol       Date:  2003-06-18       Impact factor: 3.714

4.  Concomitant hypercalcemia and hyperammonemia associated with distal renal tubular acidosis.

Authors:  Arun Saini; Swati A Karmakar; Nirupama Kannikeswaran
Journal:  Pediatr Emerg Care       Date:  2012-03       Impact factor: 1.454

Review 5.  Functional significance of channels and transporters expressed in the inner ear and kidney.

Authors:  Florian Lang; Volker Vallon; Marlies Knipper; Philine Wangemann
Journal:  Am J Physiol Cell Physiol       Date:  2007-08-01       Impact factor: 4.249

6.  Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

Authors:  E H Stover; K J Borthwick; C Bavalia; N Eady; D M Fritz; N Rungroj; A B S Giersch; C C Morton; P R Axon; I Akil; E A Al-Sabban; D M Baguley; S Bianca; A Bakkaloglu; Z Bircan; D Chauveau; M-J Clermont; A Guala; S A Hulton; H Kroes; G Li Volti; S Mir; H Mocan; A Nayir; S Ozen; J Rodriguez Soriano; S A Sanjad; V Tasic; C M Taylor; R Topaloglu; A N Smith; F E Karet
Journal:  J Med Genet       Date:  2002-11       Impact factor: 6.318

7.  Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

Authors:  Rosa Vargas-Poussou; Pascal Houillier; Nelly Le Pottier; Laurence Strompf; Chantal Loirat; Véronique Baudouin; Marie-Alice Macher; Michèle Déchaux; Tim Ulinski; François Nobili; Philippe Eckart; Robert Novo; Mathilde Cailliez; Rémi Salomon; Hubert Nivet; Pierre Cochat; Ivan Tack; Anne Fargeot; François Bouissou; Gwenaelle Roussey Kesler; Stéphanie Lorotte; Nathalie Godefroid; Valérie Layet; Gilles Morin; Xavier Jeunemaître; Anne Blanchard
Journal:  J Am Soc Nephrol       Date:  2006-04-12       Impact factor: 10.121

8.  Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: a possible new autosomal recessive syndrome.

Authors:  Eissa Faqeih; Samhar I Al-Akash; Nadia Sakati; Prof Ahmad S Teebi
Journal:  Am J Med Genet A       Date:  2007-09-01       Impact factor: 2.802

Review 9.  Inherited renal acidoses.

Authors:  Andrew C Fry; Fiona E Karet
Journal:  Physiology (Bethesda)       Date:  2007-06

Review 10.  Genetic causes and mechanisms of distal renal tubular acidosis.

Authors:  Daniel Batlle; Syed K Haque
Journal:  Nephrol Dial Transplant       Date:  2012-10       Impact factor: 5.992
  10 in total
  2 in total

1.  An infant with hypercalcemia and hyperammonia: inborn error of metabolism or not? Answers.

Authors:  Arife Uslu Gökceoğlu; Medine Ayşin Taşar; Zahide Yalaki; Abdullah Güneş; Abdullatif Bakır
Journal:  Pediatr Nephrol       Date:  2018-07-19       Impact factor: 3.714

Review 2.  Distal renal tubular acidosis: genetic causes and management.

Authors:  Sílvia Bouissou Morais Soares; Luiz Alberto Wanderley de Menezes Silva; Flávia Cristina de Carvalho Mrad; Ana Cristina Simões E Silva
Journal:  World J Pediatr       Date:  2019-05-11       Impact factor: 2.764
  2 in total

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