188 related articles for article (PubMed ID: 1904705)
1. [Syndrome associating: osteopetrosis, tubular acidosis, mental retardation and cerebral calcifications due to carbonic anhydrase II deficiency. Apropos of 3 cases in the siblings].
Bejaoui M; Kamoun A; Baraket M; Bourguiba H; Lakhoua R
Arch Fr Pediatr; 1991 Mar; 48(3):211-4. PubMed ID: 1904705
[TBL] [Abstract][Full Text] [Related]
2. [Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases].
Cochat P; Loras-Duclaux I; Guibaud P
Pediatrie; 1987; 42(2):121-8. PubMed ID: 3112731
[TBL] [Abstract][Full Text] [Related]
3. Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification.
Ohlsson A; Cumming WA; Paul A; Sly WS
Pediatrics; 1986 Mar; 77(3):371-81. PubMed ID: 3081869
[TBL] [Abstract][Full Text] [Related]
4. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
Sly WS; Whyte MP; Sundaram V; Tashian RE; Hewett-Emmett D; Guibaud P; Vainsel M; Baluarte HJ; Gruskin A; Al-Mosawi M
N Engl J Med; 1985 Jul; 313(3):139-45. PubMed ID: 3925334
[TBL] [Abstract][Full Text] [Related]
5. Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
Shah GN; Bonapace G; Hu PY; Strisciuglio P; Sly WS
Hum Mutat; 2004 Sep; 24(3):272. PubMed ID: 15300855
[TBL] [Abstract][Full Text] [Related]
6. [Osteopetrosis and renal acidosis: a new case of this rare syndrome].
Ruffa G; Milanaccio C; Sbolgi P; Levato GL; Bartocci M; Galasso V; Bruschettini PL
Minerva Pediatr; 1995 Apr; 47(4):135-40. PubMed ID: 7643812
[TBL] [Abstract][Full Text] [Related]
7. The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters.
Al Rajeh S; el Mouzan MI; Ahlberg A; Ozaksoy D
Neuropediatrics; 1988 Aug; 19(3):162-5. PubMed ID: 3221988
[TBL] [Abstract][Full Text] [Related]
8. The neurology of carbonic anhydrase type II deficiency syndrome.
Bosley TM; Salih MA; Alorainy IA; Islam MZ; Oystreck DT; Suliman OS; al Malki S; Suhaibani AH; Khiari H; Beckers S; van Wesenbeeck L; Perdu B; AlDrees A; Elmalik SA; Van Hul W; Abu-Amero KK
Brain; 2011 Dec; 134(Pt 12):3502-15. PubMed ID: 22120147
[TBL] [Abstract][Full Text] [Related]
9. Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification).
Schwartz GJ; Brion LP; Corey HE; Dorfman HD
Skeletal Radiol; 1991; 20(6):447-52. PubMed ID: 1925679
[TBL] [Abstract][Full Text] [Related]
10. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.
Hu PY; Roth DE; Skaggs LA; Venta PJ; Tashian RE; Guibaud P; Sly WS
Hum Mutat; 1992; 1(4):288-92. PubMed ID: 1301935
[TBL] [Abstract][Full Text] [Related]
11. Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?
Sh Ali AA; Al-Mashta SA
Saudi J Kidney Dis Transpl; 2013 May; 24(3):561-5. PubMed ID: 23640632
[TBL] [Abstract][Full Text] [Related]
12. Intracranial calcification in children with osteopetrosis caused by carbonic anhydrase II deficiency.
Cumming WA; Ohlsson A
Radiology; 1985 Nov; 157(2):325-7. PubMed ID: 2413500
[TBL] [Abstract][Full Text] [Related]
13. Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X).
Soda H; Yukizane S; Yoshida I; Aramaki S; Kato H
Hum Mutat; 1995; 5(4):348-50. PubMed ID: 7627193
[No Abstract] [Full Text] [Related]
14. Carbonic anhydrase II deficiency a novel mutation.
Nampoothiri S; Anikster Y
Indian Pediatr; 2009 Jun; 46(6):532-4. PubMed ID: 19556665
[TBL] [Abstract][Full Text] [Related]
15. Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (carbonic anhydrase-II deficiency).
Whyte MP; Hamm LL; Sly WS
J Bone Miner Res; 1988 Aug; 3(4):385-8. PubMed ID: 3146897
[TBL] [Abstract][Full Text] [Related]
16. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
Sly WS; Hewett-Emmett D; Whyte MP; Yu YS; Tashian RE
Proc Natl Acad Sci U S A; 1983 May; 80(9):2752-6. PubMed ID: 6405388
[TBL] [Abstract][Full Text] [Related]
17. Carbonic anhydrase II deficiency.
Whyte MP
Bone; 2023 Apr; 169():116684. PubMed ID: 36709914
[TBL] [Abstract][Full Text] [Related]
18. [Kidney tubular transport disorders. Carbonic anhydrase II deficiency].
Yabuta K
Nihon Rinsho; 1989 Jul; 47(7):1646-8. PubMed ID: 2509763
[No Abstract] [Full Text] [Related]
19. Long-term follow up of carbonic anhydrase II deficiency syndrome.
Awad M; Al-Ashwal AA; Sakati N; Al-Abbad AA; Bin-Abbas BS
Saudi Med J; 2002 Jan; 23(1):25-9. PubMed ID: 11938359
[TBL] [Abstract][Full Text] [Related]
20. Osteopetrosis, renal tubular acidosis without urinary concentration abnormality, cerebral calcification and severe mental retardation in three Turkish brothers.
Ocal G; Berberoğlu M; Adiyaman P; Cetinkaya E; Ekim M; Aycan Z; Evliyaoğlu O
J Pediatr Endocrinol Metab; 2001; 14(9):1671-7. PubMed ID: 11795660
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]