Literature DB >> 4357855

Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D.

D Fraser, S W Kooh, H P Kind, M F Holick, Y Tanaka, H F DeLuca.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1973        PMID: 4357855     DOI: 10.1056/NEJM197310182891601

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  53 in total

1.  A case of pseudovitamin D deficiency-like rickets in an infant treated with 1,25-dihydroxycholecalciferol. Preliminary note.

Authors:  F Vecchio; F Carnevale; G Paganetti; G di Bitonto; G Marinelli
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

Review 2.  Molecular genetics of mineral metabolic disorders.

Authors:  R V Thakker
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 3.  The biology and pathology of vitamin D control in bone.

Authors:  Taison D Bell; Marie B Demay; Sherri-Ann M Burnett-Bowie
Journal:  J Cell Biochem       Date:  2010-09-01       Impact factor: 4.429

Review 4.  New developments in our understanding of vitamin metabolism, action and treatment.

Authors:  Sylvia Christakos; Shanshan Li; Jessica De La Cruz; Daniel D Bikle
Journal:  Metabolism       Date:  2019-06-19       Impact factor: 8.694

5.  CYP27B1 null mice with LacZreporter gene display no 25-hydroxyvitamin D3-1alpha-hydroxylase promoter activity in the skin.

Authors:  Janeen L Vanhooke; Jean M Prahl; Christine Kimmel-Jehan; Monica Mendelsohn; Eric W Danielson; Kevin D Healy; Hector F DeLuca
Journal:  Proc Natl Acad Sci U S A       Date:  2005-12-21       Impact factor: 11.205

Review 6.  Role of prostaglandins in the pathogenesis of X-linked hypophosphatemia.

Authors:  Michel Baum; Ashu Syal; Raymond Quigley; Mouin Seikaly
Journal:  Pediatr Nephrol       Date:  2006-05-24       Impact factor: 3.714

Review 7.  Biology and Mechanisms of Action of the Vitamin D Hormone.

Authors:  J Wesley Pike; Sylvia Christakos
Journal:  Endocrinol Metab Clin North Am       Date:  2017-09-29       Impact factor: 4.741

8.  Congenital rickets caused by maternal vitamin D deficiency.

Authors:  A Micheil Innes; Molly M Seshia; Chitra Prasad; Saif Al Saif; Frank R Friesen; Albert E Chudley; Martin Reed; Louise A Dilling; James C Haworth; Cheryl R Greenberg
Journal:  Paediatr Child Health       Date:  2002-09       Impact factor: 2.253

Review 9.  The Causes of Hypo- and Hyperphosphatemia in Humans.

Authors:  Eugénie Koumakis; Catherine Cormier; Christian Roux; Karine Briot
Journal:  Calcif Tissue Int       Date:  2020-04-13       Impact factor: 4.333

10.  Inherited disorders of calcium and phosphate metabolism.

Authors:  Jyothsna Gattineni
Journal:  Curr Opin Pediatr       Date:  2014-04       Impact factor: 2.856

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.