Literature DB >> 30406307

Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation.

M Bargagli1,2, G Primiano3,2, A Primiano4, J Gervasoni4, A Naticchia1, S Servidei3,2, G Gambaro1,2, P M Ferraro5,6.   

Abstract

Entities:  

Year:  2018        PMID： 30406307     DOI： 10.1007/s00240-018-1087-1

Source DB:  PubMed          Journal:  Urolithiasis        ISSN： 2194-7228            Impact factor:   3.436


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  16 in total

Review 1.  Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.

Authors:  Giovanni Gambaro; Giuseppe Vezzoli; Giorgio Casari; Luca Rampoldi; Angela D'Angelo; Loris Borghi
Journal:  Am J Kidney Dis       Date:  2004-12       Impact factor: 8.860

Review 2.  The clinical maze of mitochondrial neurology.

Authors:  Salvatore DiMauro; Eric A Schon; Valerio Carelli; Michio Hirano
Journal:  Nat Rev Neurol       Date:  2013-07-09       Impact factor: 42.937

3.  Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA.

Authors:  K Tanaka; Y Takada; T Matsunaka; S Yuyama; S Fujino; M Maguchi; S Yamashita; I Yuba
Journal:  Intern Med       Date:  2000-03       Impact factor: 1.271

4.  Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation.

Authors:  O Hotta; C N Inoue; S Miyabayashi; T Furuta; A Takeuchi; Y Taguma
Journal:  Kidney Int       Date:  2001-04       Impact factor: 10.612

5.  Daily parathyroid hormone 1-34 replacement therapy for hypoparathyroidism induces marked changes in bone turnover and structure.

Authors:  Rachel I Gafni; Jaime S Brahim; Panagiota Andreopoulou; Nisan Bhattacharyya; Marilyn H Kelly; Beth A Brillante; James C Reynolds; Hua Zhou; David W Dempster; Michael T Collins
Journal:  J Bone Miner Res       Date:  2012-08       Impact factor: 6.741

Review 6.  Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome.

Authors:  Douglas M Sproule; Petra Kaufmann
Journal:  Ann N Y Acad Sci       Date:  2008-10       Impact factor: 5.691

7.  Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

Authors:  Benjamin Nota; Eduard A Struys; Ana Pop; Erwin E Jansen; Matilde R Fernandez Ojeda; Warsha A Kanhai; Martijn Kranendijk; Silvy J M van Dooren; Marianna R Bevova; Erik A Sistermans; Aggie W M Nieuwint; Magalie Barth; Tawfeg Ben-Omran; Georg F Hoffmann; Pascale de Lonlay; Marie T McDonald; Alf Meberg; Ania C Muntau; Jean-Marc Nuoffer; Rossella Parini; Marie-Hélène Read; Axel Renneberg; René Santer; Thomas Strahleck; Emile van Schaftingen; Marjo S van der Knaap; Cornelis Jakobs; Gajja S Salomons
Journal:  Am J Hum Genet       Date:  2013-04-04       Impact factor: 11.025

8.  Occurrence of hypercalciuria in patients with osteoporosis treated with teriparatide.

Authors:  Paul D Miller; John P Bilezikian; Manuel Diaz-Curiel; Peiqi Chen; Fernando Marin; John H Krege; Mayme Wong; Robert Marcus
Journal:  J Clin Endocrinol Metab       Date:  2007-07-03       Impact factor: 5.958

Review 9.  Renal involvement in mitochondrial cytopathies.

Authors:  Francesco Emma; Enrico Bertini; Leonardo Salviati; Giovanni Montini
Journal:  Pediatr Nephrol       Date:  2011-06-09       Impact factor: 3.714

10.  The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Authors:  Michelangelo Mancuso; Daniele Orsucci; Corrado Angelini; Enrico Bertini; Valerio Carelli; Giacomo Pietro Comi; Alice Donati; Carlo Minetti; Maurizio Moggio; Tiziana Mongini; Serenella Servidei; Paola Tonin; Antonio Toscano; Graziella Uziel; Claudio Bruno; Elena Caldarazzo Ienco; Massimiliano Filosto; Costanza Lamperti; Michela Catteruccia; Isabella Moroni; Olimpia Musumeci; Elena Pegoraro; Dario Ronchi; Filippo Maria Santorelli; Donato Sauchelli; Mauro Scarpelli; Monica Sciacco; Maria Lucia Valentino; Liliana Vercelli; Massimo Zeviani; Gabriele Siciliano
Journal:  J Neurol       Date:  2013-12-29       Impact factor: 4.849
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  3 in total

1.  The Spectrum of Renal Abnormalities in Mitochondrial Disorders Is Broad.

Authors:  Josef Finsterer
Journal:  Kidney Int Rep       Date:  2022-05-19

2.  A Specific Urinary Amino Acid Profile Characterizes People with Kidney Stones.

Authors:  Aniello Primiano; Silvia Persichilli; Pietro Manuel Ferraro; Riccardo Calvani; Alessandra Biancolillo; Federico Marini; Anna Picca; Emanuele Marzetti; Andrea Urbani; Jacopo Gervasoni
Journal:  Dis Markers       Date:  2020-06-30       Impact factor: 3.434

Review 3.  Calcium and Vitamin D Supplementation and Their Association with Kidney Stone Disease: A Narrative Review.

Authors:  Matteo Bargagli; Pietro Manuel Ferraro; Matteo Vittori; Gianmarco Lombardi; Giovanni Gambaro; Bhaskar Somani
Journal:  Nutrients       Date:  2021-12-04       Impact factor: 5.717
  3 in total

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