Last Updated: 09/26/2026
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Found 7 publications
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: May 21, 2021
The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis.
Journal: PloS one
Published: March 20, 2019
A no-nonsense approach to hereditary kidney disease.
Journal: Pediatric nephrology (Berlin, Germany)
Published: March 18, 2019
Mechanism of Action and Clinical Application of Tafamidis in Hereditary Transthyretin Amyloidosis.
Journal: Neurology and therapy
Published: August 25, 2015
Post hoc analysis of nutritional status in patients with transthyretin familial amyloid polyneuropathy: impact of tafamidis.
Journal: Neurology and therapy
Published: October 08, 2014
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Last Updated: 09/26/2026