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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. 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

Review 7. Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders.

Authors: R Todd Alexander; Emmanuelle Cordat; Régine Chambrey; Henrik Dimke; Dominique Eladari
Journal: J Am Soc Nephrol Date: 2016-07-28 Impact factor: 10.121

8. 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

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

Osteopetrosis associated with proximal and distal tubular acidosis.