Concepedia

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene

Sara Baumgartner‐Sigl, Edda Haberlandt, Steven Mumm, Sabine Scholl‐Bürgi, Consolato Sergi, Lawrence M. Ryan, Karen L. Ericson, Michael P. Whyte, Wolfgang Högler

Bone · 2007 · 165 citations · 27 references

DOI

Concepts

References

27

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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Nomenclature for the description of human sequence variations

JT den Dunnen, Stylianos E. Antonarakis · Human Genetics · 2001 · 905 citations

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Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Philippa B. Mills, Eduard A. Struys, Cornelis Jakobs et al. · Nature Medicine · 2006 · 547 citations

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Mice lacking tissue non–specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B–6

Katrina G. Waymire, J. Dennis Mahuren, J. Michael Jaje et al. · Nature Genetics · 1995 · 404 citations

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Alkaline Phosphatase Knock-Out Mice Recapitulate the Metabolic and Skeletal Defects of Infantile Hypophosphatasia

K N Fedde, Libby A. Blair, Julie Silverstein et al. · Journal of Bone and Mineral Research · 1999 · 400 citations · Full text

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