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Article

Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome.

European journal of pediatrics - 1 Dec 1997

Ismail E A, Abul Saad S, Sabry M A

Abstract excerpt

We report three new Kuwaiti patients with carbonic anhydrase II deficiency (CA II) from two unrelated families. Each patient had osteopetrosis, distal renal tubular acidosis, and cerebral calcification. Patients from family 1 (a brother and a sister) had some facial anomalies and delayed development. At the age of 14 months, ultrasound studies in the girl showed medullary nephrocalcinosis which has not been...

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Identifiers

PMID: 9453381
DOI: 10.1007/s004310050751

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome.PMID 9453381Read ↗

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Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family.Semantic proximity Read ↗

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