(Q37808778)

23 August 2017

1 reference

title

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

1 reference

23 August 2017

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P Strisciuglio

1

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23 August 2017

R Sartorio

2

1 reference

23 August 2017

C Pecoraro

3

1 reference

23 August 2017

F Lotito

4

1 reference

23 August 2017

W S Sly

5

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23 August 2017

publication date

1 February 1990

1 reference

European Journal of Pediatrics

23 August 2017

published in

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23 August 2017

volume

149

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23 August 2017

issue

5

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23 August 2017

page(s)

337-340

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https://scigraph.springernature.com/pub.10.1007/bf02171561

23 August 2017

exact match

0 references

cites work

Renal bicarbonate reabsorption and hydrogen ion excretion in normal infants

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF02171561

Renal Tubular Acidosis and Osteopetrosis in Siblings

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Osteopetrosis with combined proximal and distal renal tubular acidosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

1 reference

12 December 2020

Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters

1 reference

12 December 2020

Bone-marrow transplantation in osteopetrosis

1 reference

12 December 2020

[Recessive osteopetrosis with cerebral calcifications. Study of 3 adult subjects in 2 consanguineous families]

1 reference

12 December 2020

Osteopetrosis associated with proximal and distal tubular acidosis

1 reference

12 December 2020

[Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases]

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02171561

1 reference

23 August 2017

1 reference