Literature DB >> 2842681

Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome.

M Tieder1, R Arie, D Modai, R Samuel, J Weissgarten, U A Liberman.   

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Year:  1988        PMID: 2842681     DOI: 10.1056/NEJM198809293191307

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


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  9 in total

Review 1.  Hereditary disorders of renal phosphate wasting.

Authors:  Amir S Alizadeh Naderi; Robert F Reilly
Journal:  Nat Rev Nephrol       Date:  2010-10-05       Impact factor: 28.314

2.  Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.

Authors:  Karl P Schlingmann; Justyna Ruminska; Martin Kaufmann; Ismail Dursun; Monica Patti; Birgitta Kranz; Ewa Pronicka; Elzbieta Ciara; Teoman Akcay; Derya Bulus; Elisabeth A M Cornelissen; Aneta Gawlik; Przemysław Sikora; Ludwig Patzer; Matthias Galiano; Veselin Boyadzhiev; Miroslav Dumic; Asaf Vivante; Robert Kleta; Benjamin Dekel; Elena Levtchenko; René J Bindels; Stephan Rust; Ian C Forster; Nati Hernando; Glenville Jones; Carsten A Wagner; Martin Konrad
Journal:  J Am Soc Nephrol       Date:  2015-06-05       Impact factor: 10.121

Review 3.  FGF23 and syndromes of abnormal renal phosphate handling.

Authors:  Clemens Bergwitz; Harald Jüppner
Journal:  Adv Exp Med Biol       Date:  2012       Impact factor: 2.622

4.  Normal regulation of calcitriol production in Gy mice. Evidence for biochemical heterogeneity in the X-linked hypophosphatemic diseases.

Authors:  G A Davidai; T Nesbitt; M K Drezner
Journal:  J Clin Invest       Date:  1990-02       Impact factor: 14.808

Review 5.  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

6.  Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.

Authors:  Abbhirami Rajagopal; Débora Braslavsky; James T Lu; Soledad Kleppe; Florencia Clément; Hamilton Cassinelli; David S Liu; Jose Miguel Liern; Graciela Vallejo; Ignacio Bergadá; Richard A Gibbs; Phillipe M Campeau; Brendan H Lee
Journal:  J Clin Endocrinol Metab       Date:  2014-07-22       Impact factor: 5.958

Review 7.  Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.

Authors:  Clemens Bergwitz; Ken-Ichi Miyamoto
Journal:  Pflugers Arch       Date:  2018-08-14       Impact factor: 3.657

Review 8.  Genetic Causes of Rickets.

Authors:  Sezer Acar; Korcan Demir; Yufei Shi
Journal:  J Clin Res Pediatr Endocrinol       Date:  2017-12-27

9.  Association of arsenic and metals with concentrations of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D among adolescents in Torreón, Mexico.

Authors:  Rachel D Zamoiski; Eliseo Guallar; Gonzalo G García-Vargas; Stephen J Rothenberg; Carol Resnick; Marisela Rubio Andrade; Amy J Steuerwald; Patrick J Parsons; Virginia M Weaver; Ana Navas-Acien; Ellen K Silbergeld
Journal:  Environ Health Perspect       Date:  2014-08-05       Impact factor: 9.031

  9 in total

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