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R. Illingworth, J. Gardiner (1955)
Premature Loss of Deciduous TeethArchives of Disease in Childhood, 30
Harris Harris, Penrose Penrose, Thomas Thomas (1959)
CystathioninuriaAnn. Hum. Genet., Land., 23
E. Sobel, L. Clark, R. Fox, M. Robinow (1953)
Rickets, deficiency of alkaline phosphatase activity and premature loss of teeth in childhood.Pediatrics, 11 4
J. Rathbun (1948)
Hypophosphatasia; a new developmental anomaly.American journal of diseases of children, 75 6
D. Fraser, E. Yendt, F. Christie (1955)
Metabolic abnormalities in hypophosphatasia.Lancet, 268 6858
Currarrino Currarrino, Neuhauser Neuhauser, Reyersbach Reyersbach, Sobel Sobel (1957)
HypophosphatasiaAmer. J. Roentgenol., 78
R. Mccance, A. Morrison, C. Dent (1955)
The excretion of phosphoethanolamine and hypophosphatasia.Lancet, 268 6855
C. Dent (1948)
A study of the behaviour of some sixty amino-acids and other ninhydrin-reacting substances on phenol-;collidine' filter-paper chromatograms, with notes as to the occurrence of some of them in biological fluids.The Biochemical journal, 43 2
B. Schlesinger, J. Luder, M. Bodian (1955)
Rickets with Alkaline Phosphatase Deficiency: An Osteoblastic DysplasiaArchives of Disease in Childhood, 30
(1957)
Unpublished data
S. Datta, C. Dent, H. Harris (1950)
An apparatus for the simultaneous production of many two-dimensional paper chromatograms.Science, 112 2917
E. Chargaff, A. Keston (1940)
THE METABOLISM OF AMINOETHYLPHOSPHORIC ACID, FOLLOWED BY MEANS OF THE RADIOACTIVE PHOSPHORUS ISOTOPEJournal of Biological Chemistry, 134
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Fraser Fraser (1957)
HypophosphatasiaAmer. J. Med., 12
D. Cusworth (1958)
The isolation and identification of phosphoethanolamine from the urine of a case of hypophosphatasia.The Biochemical journal, 68 2
(1958)
Argininosuccinicaciduria
Summary The ethanolamine phosphate excretion of 381 relatives of sixteen cases of hypophosphatasia was studied by paper chromatography. Eighty‐one of these individuals excreted small, but significantly abnormal amounts of ethanolamine phosphate. Their relationship to the patients suggested that they were heterozygous for the rare gene causing the full syndrome of hypophosphatasia in homozygotes. All the heterozygotes expected could not be detected using the methods employed, but it was estimated that 58 % could be demonstrated. The rate of manifestation was not significantly different in different groups of relatives, nor was it affected by age or sex. A positive sib‐sib correlation with regard to rate of manifestation, and the absence of any such correlation between parent and child was interpreted as meaning that there may be more than one allele at the locus under consideration.
Annals of Human Genetics – Wiley
Published: May 1, 1959
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