These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 7643812)

  • 1. [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]  

  • 2. [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]  

  • 3. 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]  

  • 4. [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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 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. Familial pure proximal renal tubular acidosis--a clinical and genetic study.
    Katzir Z; Dinour D; Reznik-Wolf H; Nissenkorn A; Holtzman E
    Nephrol Dial Transplant; 2008 Apr; 23(4):1211-5. PubMed ID: 17881426
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Carbonic anhydrase II deficiency.
    Whyte MP
    Bone; 2023 Apr; 169():116684. PubMed ID: 36709914
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Osteopetrosis and renal tubular acidosis. 2 cases of this association in a sibship].
    Guibaud P; Larbre F; Freycon MT; Genoud J
    Arch Fr Pediatr; 1972 Mar; 29(3):269-86. PubMed ID: 4661410
    [No Abstract]   [Full Text] [Related]  

  • 15. Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification.
    Cotter M; Connell T; Colhoun E; Smith OP; McMahon C
    J Pediatr Hematol Oncol; 2005 Feb; 27(2):115-7. PubMed ID: 15701991
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Renal tubular acidosis: developments in our understanding of the molecular basis.
    Laing CM; Toye AM; Capasso G; Unwin RJ
    Int J Biochem Cell Biol; 2005 Jun; 37(6):1151-61. PubMed ID: 15778079
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.