<i>NT5E</i> Mutations and Arterial Calcifications
2011 · New England Journal of Medicine · 444 citations
https://doi.org/10.1056/nejmoa0912923
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Shira G. Ziegler
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Shira G. Ziegler is an academic researcher. The author has contributed to research in topics: Dermatological and Skeletal Disorders & Parathyroid Disorders and Treatments & Connective tissue disorders research. The author has an h-index of 21, co-authored 34 publications.
ORCID: 0000-0002-3007-9755Papers by this author
worksEctopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase
2017 · Science Translational Medicine · 108 citations
https://doi.org/10.1126/scitranslmed.aal1669
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification
2016 · American Journal of Medical Genetics Part A · 32 citations
https://doi.org/10.1002/ajmg.a.37574
P035: Metabolic profiling of cytosolic phosphoenolpyruvate carboxykinase (PEPCK1) deficiency associated with a novel homozygous missense variant in PCK1
2024 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2024.100912
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