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Article

Hypophosphatasia: molecular diagnosis of Rathbun's original case.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Sept 2001

Mumm S, Jones J, Finnegan P, Whyte M P

Abstract excerpt

In 1948, Dr. John Campbell Rathbun characterized the disorder "hypophosphatasia" when he reported paradoxically low levels of alkaline phosphatase (ALP) activity in blood and in several tissues from an infant who died with rickets and epilepsy, which seemed to reflect "a new developmental anomaly." Hypophosphatasia is now recognized to be an inborn error of metabolism featuring deficient activity of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11547844
DOI: 10.1359/jbmr.2001.16.9.1724

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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