共 45 条
[1]
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies
[J].
Beck, Bodo B.
;
Baasner, Anne
;
Buescher, Anja
;
Habbig, Sandra
;
Reintjes, Nadine
;
Kemper, Markus J.
;
Sikora, Przemyslaw
;
Mache, Christoph
;
Pohl, Martin
;
Stahl, Mirjam
;
Toenshoff, Burkhard
;
Pape, Lars
;
Fehrenbach, Henry
;
Jacob, Dorrit E.
;
Grohe, Bernd
;
Wolf, Matthias T.
;
Nuernberg, Gudrun
;
Yigit, Goekhan
;
Salido, Eduardo C.
;
Hoppe, Bernd
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2013, 21 (02)
:162-172

Beck, Bodo B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Baasner, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Buescher, Anja
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp Essen, Dept Pediat, Essen, Germany Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Habbig, Sandra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Cologne, Dept Pediat & Adolescent Med, Div Pediat Nephrol, Cologne, Germany Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

论文数: 引用数:
h-index:
机构:

Kemper, Markus J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hamburg, Dept Pediat, Div Pediat Nephrol, Hamburg, Germany Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Sikora, Przemyslaw
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lublin, Dept Pediat Nephrol, Lublin, Poland Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Mache, Christoph
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Graz, Dept Pediat, Nephrol Unit, Graz, Austria Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Pohl, Martin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Dept Pediat & Adolescent Med, Div Pediat Nephrol, D-79106 Freiburg, Germany Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Stahl, Mirjam
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp Heidelberg, Dept Pediat, Heidelberg, Germany Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Toenshoff, Burkhard
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp Heidelberg, Dept Pediat, Heidelberg, Germany Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Pape, Lars
论文数: 0 引用数: 0
h-index: 0
机构:
Hannover Med Sch, Dept Pediat Nephrol, Hannover, Germany Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Fehrenbach, Henry
论文数: 0 引用数: 0
h-index: 0
机构:
Dept Pediat Nephrol Memmingen, Memmingen, Germany Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Jacob, Dorrit E.
论文数: 0 引用数: 0
h-index: 0
机构:
Johannes Gutenberg Univ Mainz, Earth Syst Sci Res Ctr, D-55122 Mainz, Germany
Johannes Gutenberg Univ Mainz, Dept Geosci, D-55122 Mainz, Germany Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Grohe, Bernd
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, Sch Dent, London, ON, Canada Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Wolf, Matthias T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Cologne, Dept Pediat & Adolescent Med, Div Pediat Nephrol, Cologne, Germany
Univ Texas SW Med Ctr Dallas, Childrens Med Ctr Dallas, Dallas, TX 75390 USA Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Nuernberg, Gudrun
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Yigit, Goekhan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Salido, Eduardo C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ La Laguna, Ctr Biomed Res Rare Dis, Hosp Univ Canarias, Tenerife, Spain Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

Hoppe, Bernd
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Cologne, Dept Pediat & Adolescent Med, Div Pediat Nephrol, Cologne, Germany Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany
[2]
Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III
[J].
Belostotsky, Ruth
;
Seboun, Eric
;
Idelson, Gregory H.
;
Milliner, Dawn S.
;
Becker-Cohen, Rachel
;
Rinat, Choni
;
Monico, Carla G.
;
Feinstein, Sofia
;
Ben-Shalom, Efrat
;
Magen, Daniella
;
Weissman, Irith
;
Charon, Celine
;
Frishberg, Yaacov
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2010, 87 (03)
:392-399

Belostotsky, Ruth
论文数: 0 引用数: 0
h-index: 0
机构:
Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel

Seboun, Eric
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 06, Div Genet & Microbiol, F-75005 Paris, France
INSERM, Fac Med Pitie Salpetriere, U525, F-75634 Paris, France Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel

Idelson, Gregory H.
论文数: 0 引用数: 0
h-index: 0
机构:
Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel

Milliner, Dawn S.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Div Nephrol, Rochester, MN 55905 USA
Mayo Clin, Mayo Clin Hyperoxaluria Ctr, Rochester, MN 55905 USA Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel

Becker-Cohen, Rachel
论文数: 0 引用数: 0
h-index: 0
机构:
Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel
Hadassah Hebrew Univ, Sch Med, IL-91120 Jerusalem, Israel Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel

Rinat, Choni
论文数: 0 引用数: 0
h-index: 0
机构:
Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel
Hadassah Hebrew Univ, Sch Med, IL-91120 Jerusalem, Israel Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel

Monico, Carla G.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Div Nephrol, Rochester, MN 55905 USA
Mayo Clin, Mayo Clin Hyperoxaluria Ctr, Rochester, MN 55905 USA Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel

Feinstein, Sofia
论文数: 0 引用数: 0
h-index: 0
机构:
Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel
Hadassah Hebrew Univ, Sch Med, IL-91120 Jerusalem, Israel Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel

Ben-Shalom, Efrat
论文数: 0 引用数: 0
h-index: 0
机构:
Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel
Hadassah Hebrew Univ, Sch Med, IL-91120 Jerusalem, Israel Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel

Magen, Daniella
论文数: 0 引用数: 0
h-index: 0
机构:
Rambam Hlth Care Campus, Pediatr Nephrol Unit, IL-31096 Haifa, Israel Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel

Weissman, Irith
论文数: 0 引用数: 0
h-index: 0
机构:
Western Galilee Med Ctr, Pediat Nephrol Unit, IL-22100 Nahariyya, Israel Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel

Charon, Celine
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Natl Genotypage, F-91057 Evry, France Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel

Frishberg, Yaacov
论文数: 0 引用数: 0
h-index: 0
机构:
Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel
Hadassah Hebrew Univ, Sch Med, IL-91120 Jerusalem, Israel Shaare Zedek Med Ctr, Div Pediat Nephrol, IL-91031 Jerusalem, Israel
[3]
Brecevic LJ, 1986, J CRYST GROWTH, V74, P309
[4]
On the catalysis of calcium oxalate dihydrate formation by osteopontin peptides
[J].
Chan, Brian P. H.
;
Vincent, Krista
;
Lajoie, Gilles A.
;
Goldberg, Harvey A.
;
Grohe, Bernd
;
Hunter, Graeme K.
.
COLLOIDS AND SURFACES B-BIOINTERFACES,
2012, 96
:22-28

Chan, Brian P. H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, Dept Biochem, London, ON N6A 5C1, Canada Univ Western Ontario, Schulich Sch Med &Dent, Dept Dent, London, ON N6A 5C1, Canada

Vincent, Krista
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, Schulich Sch Med &Dent, Dept Dent, London, ON N6A 5C1, Canada Univ Western Ontario, Schulich Sch Med &Dent, Dept Dent, London, ON N6A 5C1, Canada

Lajoie, Gilles A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, Dept Biochem, London, ON N6A 5C1, Canada Univ Western Ontario, Schulich Sch Med &Dent, Dept Dent, London, ON N6A 5C1, Canada

Goldberg, Harvey A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, Schulich Sch Med &Dent, Dept Dent, London, ON N6A 5C1, Canada
Univ Western Ontario, Dept Biochem, London, ON N6A 5C1, Canada Univ Western Ontario, Schulich Sch Med &Dent, Dept Dent, London, ON N6A 5C1, Canada

Grohe, Bernd
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, Schulich Sch Med &Dent, Dept Dent, London, ON N6A 5C1, Canada Univ Western Ontario, Schulich Sch Med &Dent, Dept Dent, London, ON N6A 5C1, Canada

Hunter, Graeme K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, Schulich Sch Med &Dent, Dept Dent, London, ON N6A 5C1, Canada
Univ Western Ontario, Dept Biochem, London, ON N6A 5C1, Canada Univ Western Ontario, Schulich Sch Med &Dent, Dept Dent, London, ON N6A 5C1, Canada
[5]
Primary hyperoxaluria type 1: still challenging!
[J].
Cochat, Pierre
;
Liutkus, Aurelia
;
Fargue, Sonia
;
Basmaison, Odile
;
Ranchin, Bruno
;
Rolland, Marie-Odile
.
PEDIATRIC NEPHROLOGY,
2006, 21 (08)
:1075-1081

Cochat, Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Edouard Herriot, Dept Pediat, F-69437 Lyon 03, France Hop Edouard Herriot, Dept Pediat, F-69437 Lyon 03, France

Liutkus, Aurelia
论文数: 0 引用数: 0
h-index: 0
机构: Hop Edouard Herriot, Dept Pediat, F-69437 Lyon 03, France

Fargue, Sonia
论文数: 0 引用数: 0
h-index: 0
机构: Hop Edouard Herriot, Dept Pediat, F-69437 Lyon 03, France

Basmaison, Odile
论文数: 0 引用数: 0
h-index: 0
机构: Hop Edouard Herriot, Dept Pediat, F-69437 Lyon 03, France

Ranchin, Bruno
论文数: 0 引用数: 0
h-index: 0
机构: Hop Edouard Herriot, Dept Pediat, F-69437 Lyon 03, France

Rolland, Marie-Odile
论文数: 0 引用数: 0
h-index: 0
机构: Hop Edouard Herriot, Dept Pediat, F-69437 Lyon 03, France
[6]
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment
[J].
Cochat, Pierre
;
Hulton, Sally-Anne
;
Acquaviva, Cecile
;
Danpure, Christopher J.
;
Daudon, Michel
;
De Marchi, Mario
;
Fargue, Sonia
;
Groothoff, Jaap
;
Harambat, Jerome
;
Hoppe, Bernd
;
Jamieson, Neville V.
;
Kemper, Markus J.
;
Mandrile, Giorgia
;
Marangella, Martino
;
Picca, Stefano
;
Rumsby, Gill
;
Salido, Eduardo
;
Straub, Michael
;
van Woerden, Christiaan S.
.
NEPHROLOGY DIALYSIS TRANSPLANTATION,
2012, 27 (05)
:1729-1736

Cochat, Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France
Hosp Civils Lyon, EPICIME, Dept Paediat, Lyon, France
Univ Lyon 1, F-69365 Lyon, France Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Hulton, Sally-Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham Childrens Hosp NHS Trust, Dept Nephrol, Birmingham, W Midlands, England Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Acquaviva, Cecile
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Civils Lyon, Ctr Biol Est, Lab Inborn Metab Dis, Lyon, France Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Danpure, Christopher J.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Cell & Dev Biol, Div Biosci, London, England Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Daudon, Michel
论文数: 0 引用数: 0
h-index: 0
机构:
Tenon Hosp, Dept Funct Invest, Lab Urolithiasis, Paris, France Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

De Marchi, Mario
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Turin, San Luigi Hosp, Med Genet Unit, Turin, Italy Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Fargue, Sonia
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Cell & Dev Biol, Div Biosci, London, England Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Groothoff, Jaap
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Paediat Nephrol, NL-1105 AZ Amsterdam, Netherlands Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Harambat, Jerome
论文数: 0 引用数: 0
h-index: 0
机构:
Bordeaux Univ Hosp, Dept Pediat, Bordeaux, France Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Hoppe, Bernd
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Cologne, Dept Pediat & Adolescent Med, Div Pediat Nephrol, Cologne, Germany Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Jamieson, Neville V.
论文数: 0 引用数: 0
h-index: 0
机构:
Cambridge Univ Hosp, Dept Surg, Cambridge, England Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Kemper, Markus J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Hamburg Eppendorf, Dept Pediat Nephrol, Hamburg, Germany Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Mandrile, Giorgia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Turin, San Luigi Hosp, Med Genet Unit, Turin, Italy Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Marangella, Martino
论文数: 0 引用数: 0
h-index: 0
机构:
Molinette Mauriziano Hosp, Nephrol & Dialysis Unit, Turin, Italy Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Picca, Stefano
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Childrens Res Hosp, Dept Nephrol Urol, Dialysis Unit, Rome, Italy Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Rumsby, Gill
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Hosp, Clin Biochem, London, England Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Salido, Eduardo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ La Laguna, Ctr Biomed Res Rare Dis CIBERER Hosp Univ Canaria, Tenerife, Spain Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

Straub, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Dept Urol, Rechts Isar Med Ctr, Munich, Germany Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

van Woerden, Christiaan S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Paediat Nephrol, NL-1105 AZ Amsterdam, Netherlands Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France
[7]
Three pathways for human kidney stone formation
[J].
Coe, Fredric L.
;
Evan, Andrew P.
;
Worcester, Elaine M.
;
Lingeman, James E.
.
UROLOGICAL RESEARCH,
2010, 38 (03)
:147-160

Coe, Fredric L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Med, Nephrol Sect, Chicago, IL 60637 USA Univ Chicago, Dept Med, Nephrol Sect, Chicago, IL 60637 USA

Evan, Andrew P.
论文数: 0 引用数: 0
h-index: 0
机构:
Indiana Univ Sch Med, Dept Anat & Cell Biol, Indianapolis, IN USA Univ Chicago, Dept Med, Nephrol Sect, Chicago, IL 60637 USA

Worcester, Elaine M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Med, Nephrol Sect, Chicago, IL 60637 USA Univ Chicago, Dept Med, Nephrol Sect, Chicago, IL 60637 USA

Lingeman, James E.
论文数: 0 引用数: 0
h-index: 0
机构:
Methodist Clarian Hosp, Int Kidney Stone Inst, Indianapolis, IN USA Univ Chicago, Dept Med, Nephrol Sect, Chicago, IL 60637 USA
[8]
INFRARED SPECTROMETRY AND RAMAN MICROPROBE IN THE ANALYSIS OF URINARY CALCULI
[J].
DAUDON, M
;
PROTAT, MF
;
REVEILLAUD, RJ
;
JAESCHKEBOYER, H
.
KIDNEY INTERNATIONAL,
1983, 23 (06)
:842-850

DAUDON, M
论文数: 0 引用数: 0
h-index: 0
机构:
INSTRUMENT SA,JOBIN YVON DIV,LONGJUMEAU,FRANCE INSTRUMENT SA,JOBIN YVON DIV,LONGJUMEAU,FRANCE

PROTAT, MF
论文数: 0 引用数: 0
h-index: 0
机构:
INSTRUMENT SA,JOBIN YVON DIV,LONGJUMEAU,FRANCE INSTRUMENT SA,JOBIN YVON DIV,LONGJUMEAU,FRANCE

REVEILLAUD, RJ
论文数: 0 引用数: 0
h-index: 0
机构:
INSTRUMENT SA,JOBIN YVON DIV,LONGJUMEAU,FRANCE INSTRUMENT SA,JOBIN YVON DIV,LONGJUMEAU,FRANCE

JAESCHKEBOYER, H
论文数: 0 引用数: 0
h-index: 0
机构:
INSTRUMENT SA,JOBIN YVON DIV,LONGJUMEAU,FRANCE INSTRUMENT SA,JOBIN YVON DIV,LONGJUMEAU,FRANCE
[9]
Daudon M, 1998, J NEPHROL, V11, P51
[10]
Daudon M, 2008, NEW ENGL J MED, V359, P100, DOI 10.1056/NEJMc0800990