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Year Number of Results
1974 1
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1989 2
1990 3
1991 1
1992 2
1993 3
1994 1
1995 1
1996 1
1998 5
2000 1
2001 4
2002 1
2003 1
2004 3
2005 2
2006 1
2007 1
2008 1
2009 1
2010 2
2011 4
2012 2
2013 5
2014 2
2015 2
2016 6
2017 2
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2020 5
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77 results

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Page 1
General Features and Laboratory Diagnosis of Toxoplasma gondii Infection.
Beder D, Esenkaya Taşbent F. Beder D, et al. Turkiye Parazitol Derg. 2020 Jun 2;44(2):94-101. doi: 10.4274/tpd.galenos.2020.6634. Turkiye Parazitol Derg. 2020. PMID: 32482042 Free article. Review.
The most common clinical findings in congenital toxoplasmosis are chorioretinitis, hydrocephalus and cerebral calcification. Another group of susceptible patients for Toxoplasma gondii are immunesuppressive patients. ...
The most common clinical findings in congenital toxoplasmosis are chorioretinitis, hydrocephalus and cerebral calcification. A …
Osteopetrosis.
Carolino J, Perez JA, Popa A. Carolino J, et al. Am Fam Physician. 1998 Mar 15;57(6):1293-6. Am Fam Physician. 1998. PMID: 9531912 Free article. Review.
Osteopetrosis congenita results in bone marrow failure and is almost always fatal. Marble bone disease causes short stature, cerebral calcification and mental retardation. Bone marrow transplant is the only chance for survival in patients with osteopetrosis congenit …
Osteopetrosis congenita results in bone marrow failure and is almost always fatal. Marble bone disease causes short stature, cerebral …
Carbonic anhydrase II deficiency.
Whyte MP. Whyte MP. Bone. 2023 Apr;169:116684. doi: 10.1016/j.bone.2023.116684. Epub 2023 Jan 27. Bone. 2023. PMID: 36709914
Carbonic anhydrase II deficiency (OMIM # 259730), initially called "osteopetrosis with renal tubular acidosis and cerebral calcification syndrome", reveals an important role for the enzyme carbonic anhydrase II (CA II) in osteoclast and renal tubule function. ...Alt …
Carbonic anhydrase II deficiency (OMIM # 259730), initially called "osteopetrosis with renal tubular acidosis and cerebral calcifi …
Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications.
Mazoni L, Apicella M, Saponaro F, Mantovani G, Elli FM, Borsari S, Pardi E, Piaggi P, Marcocci C, Cetani F. Mazoni L, et al. J Clin Endocrinol Metab. 2021 Jul 13;106(8):e3005-e3020. doi: 10.1210/clinem/dgab208. J Clin Endocrinol Metab. 2021. PMID: 33780542
No significant difference was observed between patients with and without intracerebral calcification for the time-weighted average values of total serum calcium, phosphate, calcium-phosphate product, and PTH fold increase. A borderline association between cerebral calci …
No significant difference was observed between patients with and without intracerebral calcification for the time-weighted average values of …
Carbonic anhydrase II deficiency.
Whyte MP. Whyte MP. Clin Orthop Relat Res. 1993 Sep;(294):52-63. Clin Orthop Relat Res. 1993. PMID: 8358947 Review.
Carbonic anhydrase (CA) isoenzyme II deficiency--formerly called the syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification--is an autosomal recessive "inborn error of metabolism" that has disclosed important insight concerning osteoclast f …
Carbonic anhydrase (CA) isoenzyme II deficiency--formerly called the syndrome of osteopetrosis with renal tubular acidosis and cerebral …
Genetic causes and mechanisms of distal renal tubular acidosis.
Batlle D, Haque SK. Batlle D, et al. Nephrol Dial Transplant. 2012 Oct;27(10):3691-704. doi: 10.1093/ndt/gfs442. Nephrol Dial Transplant. 2012. PMID: 23114896 Review.
Mutations in the gene encoding the cytosolic CA II are associated with the autosomal recessive syndrome of osteopetrosis, mixed distal and proximal RTA and cerebral calcification. Mutations in the AE1, the gene that encodes the Cl(-)/HCO(3)(-) exchanger, usually pre …
Mutations in the gene encoding the cytosolic CA II are associated with the autosomal recessive syndrome of osteopetrosis, mixed distal and p …
Encephalopathies with intracranial calcification in children: clinical and genetic characterization.
Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol J, Garcia-Cazorla A, Perez Duenas B; Cerebral Calcification International Study Group; Chiapparini L, Garavaglia B, Orcesi S. Tonduti D, et al. Orphanet J Rare Dis. 2018 Aug 16;13(1):135. doi: 10.1186/s13023-018-0854-y. Orphanet J Rare Dis. 2018. PMID: 30111349 Free PMC article.
BACKGROUND: We present a group of patients affected by a paediatric onset genetic encephalopathy with cerebral calcification of unknown aetiology studied with Next Generation Sequencing (NGS) genetic analyses. ...DNA samples were tested by means of a customized gene …
BACKGROUND: We present a group of patients affected by a paediatric onset genetic encephalopathy with cerebral calcification o …
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutieres syndrome: Diagnostic and disease-monitoring implications.
Tonduti D, Izzo G, D'Arrigo S, Riva D, Moroni I, Zorzi G, Cavallera V, Pichiecchio A, Uggetti C, Veggiotti P, Orcesi S, Chiapparini L, Parazzini C. Tonduti D, et al. Mol Genet Metab. 2019 Apr;126(4):489-494. doi: 10.1016/j.ymgme.2019.02.006. Epub 2019 Feb 25. Mol Genet Metab. 2019. PMID: 30826161
Neuroradiological findings are typically characterized by white matter abnormalities, cerebral atrophy and cerebral calcification. The disease usually manifests itself during the first year of life in the form of an initial "encephalitic-like" phase followed by a ch …
Neuroradiological findings are typically characterized by white matter abnormalities, cerebral atrophy and cerebral calcification …
77 results