Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
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Author / Creator
Jaureguiberry, Graciana , De La Dure-molla, Muriel , Parry, David , Quentric, Mickael , Himmerkus, Nina , Koike, Toshiyasu , Poulter, James , Klootwijk, Enriko , Robinette, Steven L , Howie, Alexander J , Patel, Vaksha , Figueres, Marie-lucile , Stanescu, Horia C , Issler, Naomi , Nicholson, Jeremy K , Bockenhauer, Detlef , Laing, Christopher , Walsh, Stephen B , Mccredie, David A , Povey, Sue , Asselin, Audrey , Picard, Arnaud , Coulomb, Aurore , Medlar, Alan J , Bailleul-forestier, Isabelle , Verloes, Alain , Le Caignec, Cedric , Roussey, Gwenaelle , Guiol, Julien , Isidor, Bertrand , Logan, Clare , Shore, Roger , Johnson, Colin , Inglehearn, Christopher , Al-bahlani, Suhaila , Schmittbuhl, Matthieu , Clauss, François , Huckert, Mathilde , Laugel, Virginie , Ginglinger, Emmanuelle , Pajarola, Sandra , Spartà, Giuseppina , Bartholdi, Deborah , Rauch, Anita , Addor, Marie-claude , Yamaguti, Paulo M , Safatle, Heloisa P , Acevedo, Ana Carolina , Martelli-júnior, Hercílio , Dos Santos Netos, Pedro E , Coletta, Ricardo D , Gruessel, Sandra , Sandmann, Carolin , Ruehmann, Denise , Langman, Craig B , Scheinman, Steven J , Ozdemir-ozenen, Didem , Hart, Thomas C , Hart, P Suzanne , Neugebauer, Ute , Schlatter, Eberhard , Houillier, Pascal , Gahl, William A , Vikkula, Miikka , Bloch-zupan, Agnès , Bleich, Markus , Kitagawa, Hiroshi , Unwin, Robert J , Mighell, Alan , Berdal, Ariane and Kleta, Robert
Publisher
Basel: S. Karger AG
Journal title
Language
English
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Publication information
Publisher
Basel: S. Karger AG
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More information
Scope and Contents
Contents
Background/Aims: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. Methods: We investigated 25 pati...
Alternative Titles
Full title
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
Authors, Artists and Contributors
Author / Creator
De La Dure-molla, Muriel
Parry, David
Quentric, Mickael
Himmerkus, Nina
Koike, Toshiyasu
Poulter, James
Klootwijk, Enriko
Robinette, Steven L
Howie, Alexander J
Patel, Vaksha
Figueres, Marie-lucile
Stanescu, Horia C
Issler, Naomi
Nicholson, Jeremy K
Bockenhauer, Detlef
Laing, Christopher
Walsh, Stephen B
Mccredie, David A
Povey, Sue
Asselin, Audrey
Picard, Arnaud
Coulomb, Aurore
Medlar, Alan J
Bailleul-forestier, Isabelle
Verloes, Alain
Le Caignec, Cedric
Roussey, Gwenaelle
Guiol, Julien
Isidor, Bertrand
Logan, Clare
Shore, Roger
Johnson, Colin
Inglehearn, Christopher
Al-bahlani, Suhaila
Schmittbuhl, Matthieu
Clauss, François
Huckert, Mathilde
Laugel, Virginie
Ginglinger, Emmanuelle
Pajarola, Sandra
Spartà, Giuseppina
Bartholdi, Deborah
Rauch, Anita
Addor, Marie-claude
Yamaguti, Paulo M
Safatle, Heloisa P
Acevedo, Ana Carolina
Martelli-júnior, Hercílio
Dos Santos Netos, Pedro E
Coletta, Ricardo D
Gruessel, Sandra
Sandmann, Carolin
Ruehmann, Denise
Langman, Craig B
Scheinman, Steven J
Ozdemir-ozenen, Didem
Hart, Thomas C
Hart, P Suzanne
Neugebauer, Ute
Schlatter, Eberhard
Houillier, Pascal
Gahl, William A
Vikkula, Miikka
Bloch-zupan, Agnès
Bleich, Markus
Kitagawa, Hiroshi
Unwin, Robert J
Mighell, Alan
Berdal, Ariane
Kleta, Robert
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3782194
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3782194
Other Identifiers
ISSN
1660-8151
E-ISSN
2235-3186,1660-2137
DOI
10.1159/000349989
