Literature DB >> 4661410

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

P Guibaud, F Larbre, M T Freycon, J Genoud.   

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Year:  1972        PMID: 4661410

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN: 0003-9764


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  17 in total

Review 1.  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 2.  Renal Tubular Acidosis: H+/Base and Ammonia Transport Abnormalities and Clinical Syndromes.

Authors:  Ira Kurtz
Journal:  Adv Chronic Kidney Dis       Date:  2018-07       Impact factor: 3.620

3.  Carbonic anhydrase II deficiency: report of a novel mutation.

Authors:  Aynaa Alsharidi; Mohammad Al-Hamed; Abdulkareem Alsuwaida
Journal:  CEN Case Rep       Date:  2015-12-08

Review 4.  Human chromosome 8.

Authors:  S Wood
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

5.  Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation.

Authors:  V Sundaram; P Rumbolo; J Grubb; P Strisciuglio; W S Sly
Journal:  Am J Hum Genet       Date:  1986-02       Impact factor: 11.025

6.  Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients.

Authors:  S Sato; X L Zhu; W S Sly
Journal:  Proc Natl Acad Sci U S A       Date:  1990-08       Impact factor: 11.205

7.  The syndrome of osteopetrosis in siblings: its occurrence in two sisters in Nigeria.

Authors:  A Adeloye
Journal:  Childs Nerv Syst       Date:  1987       Impact factor: 1.475

8.  Molecular basis of human carbonic anhydrase II deficiency.

Authors:  D E Roth; P J Venta; R E Tashian; W S Sly
Journal:  Proc Natl Acad Sci U S A       Date:  1992-03-01       Impact factor: 11.205

9.  Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification).

Authors:  G J Schwartz; L P Brion; H E Corey; H D Dorfman
Journal:  Skeletal Radiol       Date:  1991       Impact factor: 2.199

10.  Intermediate form of osteopetrosis with recessive inheritance.

Authors:  N Kaibara; I Katsuki; T Hotokebuchi; K Takagishi
Journal:  Skeletal Radiol       Date:  1982       Impact factor: 2.199

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