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Orthopedic needs in X-linked hypophosphatemic rickets
Bone Abstracts
◽
10.1530/boneabs.7.is14
◽
2019
◽
Author(s):
Rudolf Ganger
◽
C Radler
◽
Rudolf Ganger
Keyword(s):
Hypophosphatemic Rickets
Download Full-text
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References
Primary hypophosphatemic rickets in an elderly woman
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10.1001/archinte.131.4.581
◽
1973
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Vol 131
(4)
◽
pp. 581-587
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Cited By ~ 1
Author(s):
V. Burnett
Keyword(s):
Elderly Woman
◽
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SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis
Yearbook of Endocrinology
◽
10.1016/s0084-3741(08)70143-4
◽
2007
◽
Vol 2007
◽
pp. 317-319
Author(s):
B.L. Clarke
Keyword(s):
Sodium Phosphate
◽
Hypophosphatemic Rickets
◽
Phosphate Homeostasis
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Hypophosphatemic Rickets: The Role of Hemiepiphysiodesis
Yearbook of Orthopedics
◽
10.1016/s0276-1092(08)70038-5
◽
2007
◽
Vol 2007
◽
pp. 35-36
Author(s):
H.A. Peterson
Keyword(s):
Hypophosphatemic Rickets
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Decision letter for "Functional Characterization of PHEX Gene Variants in Children with X‐linked Hypophosphatemic Rickets Shows no Evidence of Genotype‐Phenotype Correlation"
10.1002/jbmr.4035/v1/decision1
◽
2020
◽
Keyword(s):
Functional Characterization
◽
Hypophosphatemic Rickets
◽
Gene Variants
Download Full-text
Acquired hypophosphatemic rickets in a 13-year-old boy presenting with knee pain and valgus deformity
Bone Abstracts
◽
10.1530/boneabs.2.p106
◽
2013
◽
Author(s):
Bowden Sasigarn
◽
Beebe Allan
◽
Wildman Sally
Keyword(s):
Knee Pain
◽
Valgus Deformity
◽
Hypophosphatemic Rickets
Download Full-text
Late onset autosomal dominant hypophosphatemic rickets; confirmation of the diagnosis with genomic analysis
Bone Abstracts
◽
10.1530/boneabs.1.pp5
◽
2013
◽
Author(s):
Symeon Tournis
◽
Ioannis Stathopoulos
◽
Kalliopi Lampropoulou-Adamidou
◽
Theodora Koromila
◽
Nikolaos Chatzistamatas
◽
...
Keyword(s):
Autosomal Dominant
◽
Late Onset
◽
Genomic Analysis
◽
Hypophosphatemic Rickets
◽
Autosomal Dominant Hypophosphatemic Rickets
Download Full-text
Interaction between FGF23 R176W mutation and C716T nonsynonymous change (T239M, rs7955866) in FGF23 on the clinical phenotype in a family with autosomal dominant hypophosphatemic rickets
Bone Abstracts
◽
10.1530/boneabs.1.pp120
◽
2013
◽
Author(s):
Daniela Merlotti
◽
Domenico Rendina
◽
Luigi Gennari
◽
Teresa Esposito
◽
Sara Magliocca
◽
...
Keyword(s):
Autosomal Dominant
◽
Clinical Phenotype
◽
Hypophosphatemic Rickets
◽
Autosomal Dominant Hypophosphatemic Rickets
◽
Nonsynonymous Change
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Cranial synostosis and Chiari 1 malformation in X-linked hypophosphatemic rickets
Bone Abstracts
◽
10.1530/boneabs.6.p087
◽
2017
◽
Author(s):
Anya Rothenbuhler
◽
Justine Bacchetta
◽
Yahya Debza
◽
Anne-Sophie Lambert
◽
Valerie Merzoug
◽
...
Keyword(s):
Hypophosphatemic Rickets
◽
Chiari 1 Malformation
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Papilledema in a toddler: An atypical presentation of X-linked hypophosphatemic rickets
Bone Abstracts
◽
10.1530/boneabs.4.p173
◽
2015
◽
Author(s):
Halley Wasserman
◽
Peggy Stenger
Keyword(s):
Hypophosphatemic Rickets
◽
Atypical Presentation
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A RARE FORM OF HYPOPHOSPHATEMIC RICKETS DUE TO MUTATIONS IN THE SLC34A3 GENE: DIAGNOSIS AND TREATMENT PECULIARITIES
PEDIATRIA Journal named after G N SPERANSKY
◽
10.24110/0031-403x-2018-97-6-69-73
◽
2018
◽
Vol 97
(6)
◽
pp. 69-73
Author(s):
E.A. Nikolaeva
◽
◽
S.Yu. Kuznetsova
◽
V.Yu. Voinova
◽
Yu.I. Davydova
◽
...
Keyword(s):
Diagnosis And Treatment
◽
Hypophosphatemic Rickets
◽
Rare Form
◽
Gene Diagnosis
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