Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry
Burden of Illness in Adults With Hypophosphatasia: Data From the [...]
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Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy
Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy Salles JP [...]
Treating hypoparathyroidism with recombinant human parathyroid hormone (1-34): long-term safety concerns
Treating hypoparathyroidism with recombinant human parathyroid hormone (1-34): long-term safety [...]
A Large Skull Defect Due to Gorham-Stout Disease: Case Report and Literature Review on Pathogenesis, Diagnosis, and Treatment
A Large Skull Defect Due to Gorham-Stout Disease: Case Report [...]
Biallelic cGMP-dependent type II protein kinase gene ( PRKG2) variants cause a novel acromesomelic dysplasia
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause [...]
Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period
Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: [...]
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO
An emerging ribosomopathy affecting the skeleton due to biallelic variations [...]
Management of Endocrine Disease: Unmet therapeutic, educational and scientific needs in parathyroid disorders
Management of Endocrine Disease: Unmet therapeutic, educational and scientific needs [...]
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
Genetic diversity and pathogenic variants as possible predictors of severity [...]
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a [...]
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