The Metabolic and Molecular Bases of Inherited Disease

By C. Scriver. 2001

9,512 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/1a2689039ec4e3421322690c4b0b0c8ff32fb638

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

1. Stephanie A. Studenski
2. Ethan Bier
3. M. Tinetti
4. Lawrence T. Reiter
5. G. Kuchel
6. D. Chace
7. J. Berk
8. Y. Ando

Citations in the corpus

• Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization (2002, background): “Deactivating mutations in the TNAP gene causes the inborn error of metabolism known as hypophosphatasia (4), characterized by poorly mineralized cartilage (rickets) and bones (osteomalacia), spontaneous bone fractures, and elevated extracellular inorganic pyrophosphate (PPi) concentrations (5).”