Osteopetrosis, renal tubular acidosis without urinary concentration abnormality, cerebral calcification and severe mental retardation in three Turkish brothers

Journal of Pediatric Endocrinology and Metabolism

Volumn 14, Issue 9, 2001, Pages 1671-1677

  Ocal G ^a   Berberoglu M ^a   Adiyaman, P ^a   Cetinkaya E ^a   Ekim, M ^a   Aycan, Z ^a   Evliyaoglu O ^a  

^a Planlamacilar Sitesi   (Turkey)

Author keywords

Carbonic anhydrase II deficiency; Intracerebral calcification; Osteopetrosis; Renal tubular acidosis

Indexed keywords

CARBONATE DEHYDRATASE II; ISOENZYME;

ADOLESCENT; ADULT; ARAB; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN CALCIFICATION; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; ENZYME DEFICIENCY; FRACTURE; GENE MUTATION; GROWTH RETARDATION; HIGH ARCHED PALATE; HUMAN; KIDNEY CONCENTRATING CAPACITY; KIDNEY TUBULE ACIDOSIS; MALE; MALOCCLUSION; MENTAL DEFICIENCY; MICROCEPHALY; MIDDLE EAST; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPOROSIS; SIBLING; SOUTHERN EUROPE; THUMB MALFORMATION; TURKEY (REPUBLIC);

EID: 0035673536     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2001.14.9.1671     Document Type: Article

References (20)

1. Recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families
2. Recessive osteopetrosis: New clinical phenotype
3. Osteopetrose at acidose renal tubularie. Deux cas de cette association dans une fratric
4. Osteopetrosis associated with proximal and distal tubular acidosis
5. Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters
6. Cerebral calcification in a syndrome of osteopetrosis and renal tubular acidosis
7. Carbonic anhydrase II deficiency identified as a primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
8. Osteopetrosis and renal tubular acidosis
9. Osteopetrosis in South Africa: The benign, lethal and intermediate forms
10. The value of inherited deficiency of human carbonic anhydrase isoenzymes in understanding their cellular roles
11. Human carbonic anhydrases and carbonic anhydrase deficiency
12. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
13. Molecular basis of human carboaic anhydrase II deficiency
14. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis from Arabic countries
15. Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: Evidence for founder effect and genomic recombination at the CA II locus
16. Carbonic anhydrase II deficiency: Single-base deletion in exon 7 is predominant mutation in Caribbean Hispanic patients
17. A point mutation in exon 3 (His107→Tyr) in two unreleated Japanese patients with carbonic anhydrase II deficiency with central system involvement
18. Clinical and molecular heterogenity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family
19. Renal tubular acidosis
20. Recent developments in the understanding of the pathophysiology of osteopetrosis