Literature DB >> 14490519

Hypophosphatasia: a genetic study.

J C RATHBUN, J W MACDONALD, H M ROBINSON, J M WANKLIN.   

Abstract

Entities:  

Keywords:  METABOLIC DISEASES/genetics; PHOSPHATASES/deficiency

Mesh：

Substances：

Year:  1961        PMID： 14490519      PMCID： PMC2012796          DOI： 10.1136/adc.36.189.540

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  7 in total

1.  Hereditary enzymatic effects as illustrated by hypophosphatasia.

Authors:  N KRETCHMER; M STONE; C BAUER
Journal:  Ann N Y Acad Sci       Date:  1958-10-13       Impact factor: 5.691

2.  A genetical study of ethanolamine phosphate excretion in hypophosphatasia.

Authors:  H HARRIS; E B ROBSON
Journal:  Ann Hum Genet       Date:  1959-12       Impact factor: 1.670

3.  Hypophosphatasia.

Authors:  D FRASER
Journal:  Am J Med       Date:  1957-05       Impact factor: 4.965

4.  Genetic, clinical, biochemical, and pathological features of hypophosphatasia; based on the study of a family.

Authors:  A M BARRETT; D V FAIRWEATHER; R A MCCANCE; A B MORRISON
Journal:  Q J Med       Date:  1956-10

5.  A microcolorimetric method for the determination of inorganic phosphorus.

Authors:  H H TAUSSKY; E SHORR
Journal:  J Biol Chem       Date:  1953-06       Impact factor: 5.157

6.  Rickets, deficiency of alkaline phosphatase activity and premature loss of teeth in childhood.

Authors:  E H SOBEL; L C CLARK; R P FOX; M ROBINOW
Journal:  Pediatrics       Date:  1953-04       Impact factor: 7.124

7.  Familial nephrogenic osteopathy due to excessive tubular reabsorption of inorganic phosphate; a new syndrome and a novel mode of relief.

Authors:  R W SCHNEIDER; A C CORCORAN
Journal:  J Lab Clin Med       Date:  1950-12
  7 in total
  3 in total

1.  HYPOPHOSPHATASIA. A METABOLIC DISEASE WITH IMPORTANT DENTAL MANIFESTATIONS.

Authors:  G M RITCHIE
Journal:  Arch Dis Child       Date:  1964-12       Impact factor: 3.791

2.  Ethanolamine phosphate excretion in a family with hypophosphatasia.

Authors:  R A GOYER
Journal:  Arch Dis Child       Date:  1963-06       Impact factor: 3.791

Review 3.  Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.

Authors:  Xiaojian Mao; Sichi Liu; Yunting Lin; Zhen Chen; Yongxian Shao; Qiaoli Yu; Haiying Liu; Zhikun Lu; Huiyin Sheng; Xinshuo Lu; Yonglan Huang; Li Liu; Chunhua Zeng
Journal:  BMC Pediatr       Date:  2019-11-25       Impact factor: 2.125
  3 in total

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