Literature DB >> 34251494

Osteopetrosis and renal tubular acidosis: Answers.

Ankur Singh1, Jaideep Rajawat2, Akanksha Singh3, Abhishek Abhinay3, Rajniti Prasad2, Om Prakash Mishra3.   

Abstract

Entities:  

Keywords:  Child; Hypercalciuria; Hypocalcemia; Hypokalemia; Marble brain disease; Osteopetrosis; Renal tubular acidosis

Year:  2021        PMID： 34251494     DOI： 10.1007/s00467-021-05185-7

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


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  4 in total

1.  [Osteopetrosis and renal tubular acidosis. 2 cases of this association in a sibship].

Authors:  P Guibaud; F Larbre; M T Freycon; J Genoud
Journal:  Arch Fr Pediatr       Date:  1972-03

2.  Long-term follow up of carbonic anhydrase II deficiency syndrome.

Authors:  Mohammad Awad; Abdullah A Al-Ashwal; Nadia Sakati; Abbas A Al-Abbad; Bassam S Bin-Abbas
Journal:  Saudi Med J       Date:  2002-01       Impact factor: 1.484

3.  Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.

Authors:  P J Venta; R J Welty; T M Johnson; W S Sly; R E Tashian
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

4.  Carbonic anhydrase II deficiency a novel mutation.

Authors:  Sheela Nampoothiri; Yair Anikster
Journal:  Indian Pediatr       Date:  2009-06       Impact factor: 1.411
  4 in total

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