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HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY

Known as: HHRH, HYPERCALCIURIC RICKETS 
 
National Institutes of Health

Papers overview

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Review
2020
Review
2020
Great strides over the past few decades have increased our understanding of the pathophysiology of hypophosphatemic disorders… Expand
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Review
2018
Review
2018
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH; OMIM: 241530) is a rare autosomal recessive disorder with an… Expand
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2017
2017
OBJECTIVE To identify a genetic basis for markedly reduced bone density and multiple fractures in an adult patient with… Expand
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2016
2016
Cas no 1 Marie Agnes D, nee en 2000, a ete hospitalisee pour douleurs abdominales et vomissements. Bilan extensif avec scanner… Expand
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2014
2014
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia… Expand
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2010
2010
Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by… Expand
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2008
2008
The present study describes two novel compound heterozygous mutations, c.410C>T(p.T137M) (T137M) on the maternal and g.4225_50del… Expand
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2005
2005
Points essentiels ● Les rachitismes hypophosphatemiques genetiquement determines regroupent le rachitisme hypophosphatemique lie… Expand
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Review
2005
Review
2005
Hereditary hypophosphatemic rickets groups together X-linked hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic… Expand
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2001
2001
BACKGROUND At present the genetic defect for autosomal recessive and autosomal dominant hypophosphataemic rickets with… Expand
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