Concepedia

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures

Marieke G. A. de Roo, N. G. G. M. Abeling, Charles B.L.M. Majoie, Annet M. Bosch, Johannes H.T.M. Koelman, Jan M. Cobben, Marinus Durán, Bwee Tien Poll‐The

Molecular Genetics and Metabolism · 2013 · 27 citations · 11 references

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11

The metabolic and molecular bases of inherited disease

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

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The Possible Significance of Hexosephosphoric Esters in Ossification

Robert Robison · Biochemical Journal · 1923 · 808 citations · Full text

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Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

Michael P. Whyte, Cheryl R. Greenberg, Nada Salman et al. · New England Journal of Medicine · 2012 · 566 citations · Full text

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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 et al. · Bone · 2007 · 165 citations

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Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase.

Michael P. Whyte, J. Dennis Mahuren, K N Fedde et al. · Journal of Clinical Investigation · 1988 · 109 citations · Full text

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