Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome von Klootwijk, Enriko D, Reichold, Markus, Helip-Wooley, Amanda, Tolaymat, Asad, Broeker, Carsten, Robinette, Steven L, Reinders, Joerg, Peindl, Dominika, Renner, Kathrin, Eberhart, Karin, Assmann, Nadine, Oefner, Peter J, Dettmer, Katja, Sterner, Christina, Schroeder, Josef, Zorger, Niels, Witzgall, Ralph, Reinhold, Stephan W, Stanescu, Horia C, Bockenhauer, Detlef, Jaureguiberry, Graciana, Courtneidge, Holly, Hall, Andrew M, Wijeyesekera, Anisha D, Holmes, Elaine, Nicholson, Jeremy K, O'Brien, Kevin, Bernardini, Isa, Krasnewich, Donna M, Arcos-Burgos, Mauricio, Izumi, Yuichiro, Nonoguchi, Hiroshi, Jia, Yuzhi, Reddy, Janardan K, Ilyas, Mohammad, Unwin, Robert J, Gahl, William A, Warth, Richard, Kleta, Robert

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Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations von 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, Kleta, Robert

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Quantification of FAM20A in human milk and identification of calcium metabolism proteins von Patel, Vaksha, Klootwijk, Enriko, Whiting, Gail, Bockenhauer, Detlef, Siew, Keith, Walsh, Stephen, Bleich, Markus, Himmerkus, Nina, Jaureguiberry, Graciana, Issler, Naomi, Godovac‐Zimmermann, Jasminka, Kleta, Robert, Wheeler, Jun

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A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-ph... von Jaureguiberry, Graciana, Carpenter, Thomas O, Forman, Stuart, Juppner, Harald, Bergwitz, Clemens

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Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations von Marks, Stephen D., Gullett, Ambrose M., Brennan, Eileen, Tullus, Kjell, Jaureguiberry, Graciana, Klootwijk, Enriko, Stanescu, Horia C., Kleta, Robert, Woolf, Adrian S.

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25: Functional Analysis of Human Mutations in NAPI-IIC Reveals Important Residues for Surface Expression and Sodium-Phosphate Co-Transport von Bergwitz, Clemens, Jaureguiberry, Graciana, Carpenter, Thomas O, Forman, Stuart, Jüppner, Harald

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A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-ph... von JAUREGUIBERRY, Graciana, CARPENTER, Thomas O, FORMAN, Stuart, JÜPPNER, Harald, BERGWITZ, Clemens

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A PATIENT WITH HYPOPHOSPHATE MIA, A FEMORAL FRACTURE, AND RECURRENT KIDNEY STONES: REPORT OF A NOVEL MUTATION IN SLC34A3 von Page, Kathleen, Bergwitz, Clemens, Jaureguiberry, Graciana, Harinarayan, Chittari V, Insogna, Karl

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Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations von JAUREGUIBERRY, Graciana, DE LA DURE-MOLLA, Muriel, 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, PARRY, David, ASSELIN, Audrey, PICARD, Arnaud, COULOMB, Aurore, MEDLAR, Alan J, BAILLEUL-FORESTIER, Isabelle, VERLOES, Alain, LE CAIGNEC, Cedric, ROUSSEY, Gwenaelle, GUIOL, Julien, ISIDOR, Bertrand, QUENTRIC, Mickael, LOGAN, Clare, SHORE, Roger, JOHNSON, Colin, INGLEHEARN, Christopher, AL-BAHLANI, Suhaila, SCHMITTBUHL, Matthieu, CLAUSS, François, HUCKERT, Mathilde, LAUGEL, Virginie, GINGLINGER, Emmanuelle, HIMMERKUS, Nina, PAJAROLA, Sandra, SPARTA, Giuseppina, BARTHOLDI, Deborah, RAUCH, Anita, ADDOR, Marie-Claude, YAMAGUTI, Paulo M, SAFATLE, Heloisa P, ACEVEDO, Ana Carolina, MARTELLI-JUNIOR, Hercílio, DOS SANTOS NETOS, Pedro E, KOIKE, Toshiyasu, COLETTA, Ricardo D, GRUESSEL, Sandra, SANDMANN, Carolin, RUEHMANN, Denise, LANGMAN, Craig B, SCHEINMAN, Steven J, OZDEMIR-OZENEN, Didem, HART, Thomas C, SUZANNE HART, P, NEUGEBAUER, Ute, POULTER, James, KLOOTWIJK, Enriko, ROBINETTE, Steven L, HOWIE, Alexander J

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Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-Identification of a novel SLC34A3/NaPi-IIc mutation von Phulwani, Priya, Bergwitz, Clemens, Jaureguiberry, Graciana, Rasoulpour, Majjid, Estrada, Elizabeth

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