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HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY

Known as: HHRH, HYPERCALCIURIC RICKETS 
National Institutes of Health

Related topics

Related topics

10 relations
Abnormality of the lower limbAutosomal recessive inheritanceBone painFailure to Thrive

Broader (1)

Familial Hypophosphatemic Rickets

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
Congenital Conditions of Hypophosphatemia in Children
Great strides over the past few decades have increased our understanding of the pathophysiology of hypophosphatemic disorders… 
2017
2017
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.
2016
2016
Néphrocalcinose et mutations du gène NPT2c
2014
2014
Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria.
Highly Cited
2010
Highly Cited
2010
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report
Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by… 
Review
2005
Review
2005
[Hereditary hypophosphatemia in adults].
Hereditary hypophosphatemic rickets groups together X-linked hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic… 
2005
2005
Hypophosphatémies génétiquement déterminées chez l’adulte
2001
2001
Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene.
BACKGROUND At present the genetic defect for autosomal recessive and autosomal dominant hypophosphataemic rickets with… 
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