Hypophosphatasia: a Genetic Study

Overview

Journal Arch Dis Child

Specialty Pediatrics

Date 1961 Oct 1

PMID 14490519

Citations 4

Authors

J C Rathbun

J W MacDonald

H M ROBINSON

J M WANKLIN

Affiliations

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Citing Articles

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.

Mao X, Liu S, Lin Y, Chen Z, Shao Y, Yu Q BMC Pediatr. 2019; 19(1):456.

PMID: 31760938 PMC: 6876108. DOI: 10.1186/s12887-019-1800-4.

The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma.

Loohuis L, Albersen M, de Jong S, Wu T, Luykx J, Jans J Genes (Basel). 2018; 10(1).

PMID: 30583557 PMC: 6357176. DOI: 10.3390/genes10010008.

HYPOPHOSPHATASIA. A METABOLIC DISEASE WITH IMPORTANT DENTAL MANIFESTATIONS.

Ritchie G Arch Dis Child. 1964; 39:584-90.

PMID: 14230754 PMC: 2019225. DOI: 10.1136/adc.39.208.584.

Ethanolamine phosphate excretion in a family with hypophosphatasia.

Goyer R Arch Dis Child. 1963; 38:205-7.

PMID: 13949647 PMC: 2019045. DOI: 10.1136/adc.38.199.205.

References

TAUSSKY H, SHORR E . A microcolorimetric method for the determination of inorganic phosphorus. J Biol Chem. 1953; 202(2):675-85. View

Barrett A, FAIRWEATHER D, McCance R, Morrison A . Genetic, clinical, biochemical, and pathological features of hypophosphatasia; based on the study of a family. Q J Med. 1956; 25(100):523-37. View

Harris H, Robson E . A genetical study of ethanolamine phosphate excretion in hypophosphatasia. Ann Hum Genet. 1959; 23:421-41. DOI: 10.1111/j.1469-1809.1959.tb01484.x. View

SOBEL E, CLARK Jr L, Fox R, ROBINOW M . Rickets, deficiency of alkaline phosphatase activity and premature loss of teeth in childhood. Pediatrics. 1953; 11(4):309-22. View

Fraser D . Hypophosphatasia. Am J Med. 1957; 22(5):730-46. DOI: 10.1016/0002-9343(57)90124-9. View