OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3

Known as: OPTB3, Carbonic anhydrase 2 deficiency, GUIBAUD-VAINSEL SYNDROME 
A rare, autosomal recessive inherited disorder caused by mutation in the CA2 gene. It is characterized by osteopetrosis, renal tubular acidosis, and… (More)
National Institutes of Health

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2013
2013
Human Autosomal Recessive Osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by… (More)
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Review
2008
Review
2008
Human recessive osteopetrosis (ARO) represents a group of diseases in which, due to a defect in osteoclasts, bone resorption is… (More)
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Highly Cited
2004
Highly Cited
2004
Urine provides an alternative to blood plasma as a potential source of disease biomarkers. One urinary biomarker already… (More)
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2004
2004
Human malignant infantile osteopetrosis (arOP) is a genetically heterogeneous autosomal recessive disorder of bone metabolism… (More)
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2003
2003
Autosomal-recessive osteopetrosis is a severe genetic disease caused by osteoclast failure. Approximately 50% of the patients… (More)
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2002
2002
Osteopetrosis is a heterogeneous group of inherited disorders that includes a malignant autosomal recessive form, an intermediate… (More)
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Highly Cited
2001
Highly Cited
2001
Human malignant infantile osteopetrosis (arOP; MIM 259700) is a genetically heterogeneous autosomal recessive disorder of bone… (More)
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Review
2000
Review
2000
Autosomal recessive “malignant” osteopetrosis is a rare congenital disorder of bone resorption. It is caused by the failure of… (More)
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Highly Cited
1994
Highly Cited
1994
OBJECTIVE To determine the variability and the natural course of children suffering from autosomal recessive osteopetrosis to… (More)
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Highly Cited
1983
Highly Cited
1983
The clinical, radiological, and pathological findings in three siblings affected with the autosomal recessive syndrome of… (More)
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