Literature DB >> 2107079

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

P Strisciuglio1, R Sartorio, C Pecoraro, F Lotito, W S Sly.   

Abstract

The clinical and biochemical findings in an Italian sibship affected by carbonic anhydrase II deficiency are described. Evidence of clinical heterogeneity and an increased frequency of the disease in the Mediterranean area and the Middle East are discussed.

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Year:  1990        PMID： 2107079     DOI： 10.1007/bf02171561

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  16 in total

1.  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

2.  Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification.

Authors:  A Ohlsson; W A Cumming; A Paul; W S Sly
Journal:  Pediatrics       Date:  1986-03       Impact factor: 7.124

3.  [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

4.  Renal tubular acidosis and osteopetrosis in siblings.

Authors:  E Bourke; V B Delaney; M Mosawi; P Reavey; M Weston
Journal:  Nephron       Date:  1981       Impact factor: 2.847

5.  Osteopetrosis with combined proximal and distal renal tubular acidosis.

Authors:  H Bregman; J Brown; A Rogers; E Bourke
Journal:  Am J Kidney Dis       Date:  1982-11       Impact factor: 8.860

6.  Renal bicarbonate reabsorption and hydrogen ion excretion in normal infants.

Authors:  C M Edelmann; J R Soriano; H Boichis; A B Gruskin; M I Acosta
Journal:  J Clin Invest       Date:  1967-08       Impact factor: 14.808

7.  Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families.

Authors:  A Ohlsson; G Stark; N Sakati
Journal:  Dev Med Child Neurol       Date:  1980-02       Impact factor: 5.449

8.  The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters.

Authors:  S Al Rajeh; M I el Mouzan; A Ahlberg; D Ozaksoy
Journal:  Neuropediatrics       Date:  1988-08       Impact factor: 1.947

9.  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

10.  Positive renal response to intravenous acetazolamide in patients with carbonic anhydrase II deficiency.

Authors:  W S Sly; M P Whyte; T Krupin; V Sundaram
Journal:  Pediatr Res       Date:  1985-10       Impact factor: 3.756
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  8 in total

Review 1.  DENTAL ENAMEL FORMATION AND IMPLICATIONS FOR ORAL HEALTH AND DISEASE.

Authors:  Rodrigo S Lacruz; Stefan Habelitz; J Timothy Wright; Michael L Paine
Journal:  Physiol Rev       Date:  2017-07-01       Impact factor: 37.312

2.  Requirements for ion and solute transport, and pH regulation during enamel maturation.

Authors:  Rodrigo S Lacruz; Charles E Smith; Pierre Moffatt; Eugene H Chang; Timothy G Bromage; Pablo Bringas; Antonio Nanci; Sanjeev K Baniwal; Joseph Zabner; Michael J Welsh; Ira Kurtz; Michael L Paine
Journal:  J Cell Physiol       Date:  2012-04       Impact factor: 6.384

3.  Identification of novel candidate genes involved in mineralization of dental enamel by genome-wide transcript profiling.

Authors:  Rodrigo S Lacruz; Charles E Smith; Pablo Bringas; Yi-Bu Chen; Susan M Smith; Malcolm L Snead; Ira Kurtz; Joseph G Hacia; Michael J Hubbard; Michael L Paine
Journal:  J Cell Physiol       Date:  2012-05       Impact factor: 6.384

4.  A survey of carbonic anhydrase mRNA expression in enamel cells.

Authors:  Rodrigo S Lacruz; Mika Hilvo; Ira Kurtz; Michael L Paine
Journal:  Biochem Biophys Res Commun       Date:  2010-02-20       Impact factor: 3.575

5.  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

6.  A point mutation in exon 3 (His 107-->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement.

Authors:  H Soda; S Yukizane; I Yoshida; Y Koga; S Aramaki; H Kato
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

7.  Carbonic anhydrase II deficiency in three unrelated Japanese patients.

Authors:  S Aramaki; I Yoshida; M Yoshino; M Kondo; Y Sato; K Noda; R Jo; A Okue; N Sai; F Yamashita
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

8.  Renal Tubular Acidosis, Osteopetrosis, and Cerebral Calcification: A Rare Syndrome Caused by Carbonic Anhydrase II Deficiency.

Authors:  B A Laway; I Mubarik
Journal:  Indian J Nephrol       Date:  2017 Jul-Aug
  8 in total

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