Literature DB >> 7312081

Renal tubular acidosis and osteopetrosis in siblings.

E Bourke, V B Delaney, M Mosawi, P Reavey, M Weston.   

Abstract

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Year:  1981        PMID： 7312081     DOI： 10.1159/000182216

Source DB:  PubMed          Journal:  Nephron        ISSN： 1660-8151            Impact factor:   2.847


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  10 in total

Review 1.  Structure, function, and regulation of the SLC4 NBCe1 transporter and its role in causing proximal renal tubular acidosis.

Authors:  Ira Kurtz; Quansheng Zhu
Journal:  Curr Opin Nephrol Hypertens       Date:  2013-09       Impact factor: 2.894

Review 2.  Sclerosing bone dysplasias--a target-site approach.

Authors:  A Greenspan
Journal:  Skeletal Radiol       Date:  1991       Impact factor: 2.199

Review 3.  Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity?

Authors:  P Strisciuglio; R Sartorio; C Pecoraro; F Lotito; W S Sly
Journal:  Eur J Pediatr       Date:  1990-02       Impact factor: 3.183

Review 4.  Benign osteopetrosis: a review of 42 cases showing two different patterns.

Authors:  T el-Tawil; D J Stoker
Journal:  Skeletal Radiol       Date:  1993-11       Impact factor: 2.199

Review 5.  The Erlenmeyer flask bone deformity in the skeletal dysplasias.

Authors:  Maha A Faden; Deborah Krakow; Fatih Ezgu; David L Rimoin; Ralph S Lachman
Journal:  Am J Med Genet A       Date:  2009-06       Impact factor: 2.802

6.  Oral acetazolamide in the assessment of (urine-blood) PCO2.

Authors:  U Alon; S Hellerstein; B A Warady
Journal:  Pediatr Nephrol       Date:  1991-05       Impact factor: 3.714

Review 7.  Autosomal recessive disorders among Arabs: an overview from Kuwait.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

8.  Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

Authors:  W S Sly; D Hewett-Emmett; M P Whyte; Y S Yu; R E Tashian
Journal:  Proc Natl Acad Sci U S A       Date:  1983-05       Impact factor: 11.205

9.  N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome.

Authors:  S E Lewis; R P Erickson; L B Barnett; P J Venta; R E Tashian
Journal:  Proc Natl Acad Sci U S A       Date:  1988-03       Impact factor: 11.205

10.  SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

Authors:  Eva-Lena Stattin; Petra Henning; Joakim Klar; Emma McDermott; Christina Stecksen-Blicks; Per-Erik Sandström; Therese G Kellgren; Patrik Rydén; Göran Hallmans; Torsten Lönnerholm; Adam Ameur; Miep H Helfrich; Fraser P Coxon; Niklas Dahl; Johan Wikström; Ulf H Lerner
Journal:  Sci Rep       Date:  2017-06-07       Impact factor: 4.379
  10 in total

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