共 30 条
[1]
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
[J].
Aerts, Johannes M.
;
Groener, Johanna E.
;
Kuiper, Sijmen
;
Donker-Koopman, Wilma E.
;
Strijland, Anneke
;
Ottenhoff, Roelof
;
van Roomen, Cindy
;
Mirzaian, Mina
;
Wijburg, Frits A.
;
Linthorst, Gabor E.
;
Vedder, Anouk C.
;
Rombach, Saskia M.
;
Cox-Brinkman, Josanne
;
Somerharju, Pentti
;
Boot, Rolf G.
;
Hollak, Carla E.
;
Brady, Roscoe O.
;
Poorthuis, Ben J.
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
2008, 105 (08)
:2812-2817

Aerts, Johannes M.
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Groener, Johanna E.
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Kuiper, Sijmen
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Donker-Koopman, Wilma E.
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Strijland, Anneke
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Ottenhoff, Roelof
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

van Roomen, Cindy
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Mirzaian, Mina
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Wijburg, Frits A.
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Linthorst, Gabor E.
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Vedder, Anouk C.
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Rombach, Saskia M.
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Cox-Brinkman, Josanne
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Somerharju, Pentti
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Dept Biochem, Inst Biomed, FIN-00014 Helsinki, Finland Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Boot, Rolf G.
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Hollak, Carla E.
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Brady, Roscoe O.
论文数: 0 引用数: 0
h-index: 0
机构:
NINCDS, Dev & Metab Neurol Branch, NIH, Bethesda, MD 20892 USA Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

Poorthuis, Ben J.
论文数: 0 引用数: 0
h-index: 0
机构:
Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Internal Med, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
Amsterdam Lysosome Ctr, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands Amsterdam Lysosome Ctr, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
[2]
Aerts JMFG, 2010, FABRY DISEASE, P133, DOI 10.1007/978-90-481-9033-1_7
[3]
[Anonymous], 2001, METABOLIC MOL BASIS
[4]
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study
[J].
Arends, Maarten
;
Wanner, Christoph
;
Hughes, Derralynn
;
Mehta, Atul
;
Oder, Daniel
;
Watkinson, Oliver T.
;
Elliott, Perry M.
;
Linthorst, Gabor E.
;
Wijburg, Frits A.
;
Biegstraaten, Marieke
;
Hollak, Carla E.
.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY,
2017, 28 (05)
:1631-1641

Arends, Maarten
论文数: 0 引用数: 0
h-index: 0
机构:
Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands

Wanner, Christoph
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Wuerzburg, Dept Internal Med 1, Div Cardiol & Nephrol, Comprehens Heart Failure Ctr, Wurzburg, Germany
Univ Hosp Wuerzburg, Fabry Ctr Interdisciplinary Therapy, Wurzburg, Germany Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands

Hughes, Derralynn
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Free London Natl Hlth Serv Fdn Trust, Dept Haematol, London, England
UCL, London, England Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands

Mehta, Atul
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Free London Natl Hlth Serv Fdn Trust, Dept Haematol, London, England
UCL, London, England Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands

Oder, Daniel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Wuerzburg, Dept Internal Med 1, Div Cardiol & Nephrol, Comprehens Heart Failure Ctr, Wurzburg, Germany
Univ Hosp Wuerzburg, Fabry Ctr Interdisciplinary Therapy, Wurzburg, Germany Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands

Watkinson, Oliver T.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, London, England
St Bartholomews Hosp, Dept Cardiol, London, England Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands

Elliott, Perry M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, London, England
St Bartholomews Hosp, Dept Cardiol, London, England Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands

Linthorst, Gabor E.
论文数: 0 引用数: 0
h-index: 0
机构:
Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands

Wijburg, Frits A.
论文数: 0 引用数: 0
h-index: 0
机构:
Acad Med Ctr, Dept Pediat, Amsterdam, Netherlands Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands

Biegstraaten, Marieke
论文数: 0 引用数: 0
h-index: 0
机构:
Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands

Hollak, Carla E.
论文数: 0 引用数: 0
h-index: 0
机构:
Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands Acad Med Ctr, Dept Endocrinol & Metab, Amsterdam, Netherlands
[5]
ENZYMATIC DEFECT IN FABRYS DISEASE - CERAMIDETRIHEXOSIDASE DEFICIENCY
[J].
BRADY, RO
;
GAL, AE
;
BRADLEY, RM
;
MARTENSS.E
;
WARSHAW, AL
;
LASTER, L
.
NEW ENGLAND JOURNAL OF MEDICINE,
1967, 276 (21)
:1163-&

BRADY, RO
论文数: 0 引用数: 0
h-index: 0

GAL, AE
论文数: 0 引用数: 0
h-index: 0

BRADLEY, RM
论文数: 0 引用数: 0
h-index: 0

MARTENSS.E
论文数: 0 引用数: 0
h-index: 0

WARSHAW, AL
论文数: 0 引用数: 0
h-index: 0

LASTER, L
论文数: 0 引用数: 0
h-index: 0
[6]
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
[J].
Burton, Barbara K.
;
Charrow, Joel
;
Hoganson, George E.
;
Waggoner, Darrell
;
Tinkle, Brad
;
Braddock, Stephen R.
;
Schneider, Michael
;
Grange, Dorothy K.
;
Nash, Claudia
;
Shryock, Heather
;
Barnett, Rebecca
;
Shao, Rong
;
Basheeruddin, Khaja
;
Dizikes, George
.
JOURNAL OF PEDIATRICS,
2017, 190
:130-135

Burton, Barbara K.
论文数: 0 引用数: 0
h-index: 0
机构:
Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA

Charrow, Joel
论文数: 0 引用数: 0
h-index: 0
机构:
Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA

Hoganson, George E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Illinois, Coll Med, Dept Pediat, Div Genet, Chicago, IL USA Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA

Waggoner, Darrell
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Pediat, Dept Human Genet, Chicago, IL 60637 USA Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA

Tinkle, Brad
论文数: 0 引用数: 0
h-index: 0
机构:
Advocate Childrens Hosp, Dept Genet, Div Clin Genet, Park Ridge, IL USA Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA

Braddock, Stephen R.
论文数: 0 引用数: 0
h-index: 0
机构:
St Louis Univ, Sch Med, Dept Pediat, Div Med Genet, St Louis, MO 63104 USA Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA

Schneider, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Carle Clin Assoc, Dept Pediat, Div Med Genet, Champaign, IL USA Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA

Grange, Dorothy K.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA

Nash, Claudia
论文数: 0 引用数: 0
h-index: 0
机构:
Illinois Dept Publ Hlth, Genet Program, Springfield, IL 62761 USA Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA

Shryock, Heather
论文数: 0 引用数: 0
h-index: 0
机构:
Illinois Dept Publ Hlth, Genet Program, Springfield, IL 62761 USA Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA

Barnett, Rebecca
论文数: 0 引用数: 0
h-index: 0
机构:
Illinois Dept Publ Hlth, Genet Program, Springfield, IL 62761 USA Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA

Shao, Rong
论文数: 0 引用数: 0
h-index: 0
机构:
Illinois Dept Publ Hlth, Newborn Screening Lab, Chicago, IL USA Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA

Basheeruddin, Khaja
论文数: 0 引用数: 0
h-index: 0
机构:
Illinois Dept Publ Hlth, Newborn Screening Lab, Chicago, IL USA Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA

Dizikes, George
论文数: 0 引用数: 0
h-index: 0
机构:
Illinois Dept Publ Hlth, Newborn Screening Lab, Chicago, IL USA
Tennessee Dept Hlth, Div Lab Serv, Nashville, TN USA Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Feinberg Sch Med, Dept Pediat,Div Genet Birth Defects & Metab, Evanston, IL 60208 USA
[7]
Fabry disease: enzymatic diagnosis in dried blood spots on filter paper
[J].
Chamoles, NA
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Blanco, M
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Gaggioli, D
.
CLINICA CHIMICA ACTA,
2001, 308 (1-2)
:195-196

Chamoles, NA
论文数: 0 引用数: 0
h-index: 0
机构:
Neurochem Lab, RA-1425 Buenos Aires, DF, Argentina Neurochem Lab, RA-1425 Buenos Aires, DF, Argentina

Blanco, M
论文数: 0 引用数: 0
h-index: 0
机构:
Neurochem Lab, RA-1425 Buenos Aires, DF, Argentina Neurochem Lab, RA-1425 Buenos Aires, DF, Argentina

Gaggioli, D
论文数: 0 引用数: 0
h-index: 0
机构:
Neurochem Lab, RA-1425 Buenos Aires, DF, Argentina Neurochem Lab, RA-1425 Buenos Aires, DF, Argentina
[8]
Newborn screening for Fabry disease in the north-west of Spain
[J].
Colon, Cristobal
;
Ortolano, Saida
;
Melcon-Crespo, Cristina
;
Alvarez, Jose V.
;
Lopez-Suarez, Olalla E.
;
Couce, Maria L.
;
Fernandez-Lorenzo, Jose R.
.
EUROPEAN JOURNAL OF PEDIATRICS,
2017, 176 (08)
:1075-1081

Colon, Cristobal
论文数: 0 引用数: 0
h-index: 0
机构:
Complexo Hosp Univ Santiago de Compostela, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela, Spain Complexo Hosp Univ Santiago de Compostela, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela, Spain

Ortolano, Saida
论文数: 0 引用数: 0
h-index: 0
机构:
SERGAS UVIGO, Galicia Sur Hlth Res Inst IIS Galicia, Hosp Alvaro Cunqueiro, Rare Dis & Pediat Med Res Grp, Bloque Tecn,Pl2 zona A,Estr Clara Campoamor 341, Vigo 36312, Pontevedra, Spain Complexo Hosp Univ Santiago de Compostela, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela, Spain

Melcon-Crespo, Cristina
论文数: 0 引用数: 0
h-index: 0
机构:
SERGAS UVIGO, Galicia Sur Hlth Res Inst IIS Galicia, Hosp Alvaro Cunqueiro, Rare Dis & Pediat Med Res Grp, Bloque Tecn,Pl2 zona A,Estr Clara Campoamor 341, Vigo 36312, Pontevedra, Spain
Xerencia Xest Integrada Vigo, Dept Pediat, SERGAS, Vigo, Spain Complexo Hosp Univ Santiago de Compostela, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela, Spain

Alvarez, Jose V.
论文数: 0 引用数: 0
h-index: 0
机构:
Complexo Hosp Univ Santiago de Compostela, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela, Spain Complexo Hosp Univ Santiago de Compostela, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela, Spain

Lopez-Suarez, Olalla E.
论文数: 0 引用数: 0
h-index: 0
机构:
Complexo Hosp Univ Santiago de Compostela, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela, Spain Complexo Hosp Univ Santiago de Compostela, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela, Spain

论文数: 引用数:
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Fernandez-Lorenzo, Jose R.
论文数: 0 引用数: 0
h-index: 0
机构:
SERGAS UVIGO, Galicia Sur Hlth Res Inst IIS Galicia, Hosp Alvaro Cunqueiro, Rare Dis & Pediat Med Res Grp, Bloque Tecn,Pl2 zona A,Estr Clara Campoamor 341, Vigo 36312, Pontevedra, Spain
Xerencia Xest Integrada Vigo, Dept Pediat, SERGAS, Vigo, Spain Complexo Hosp Univ Santiago de Compostela, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela, Spain
[9]
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes.: Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population
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Dobrovolny, R
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Dvorakova, L
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Ledvinova, J
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Magage, S
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Bultas, J
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Elleder, M
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Karetova, D
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Pavlikova, M
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Hrebicek, M
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JOURNAL OF MOLECULAR MEDICINE-JMM,
2005, 83 (08)
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Dobrovolny, R
论文数: 0 引用数: 0
h-index: 0
机构: Charles Univ, Fac Med 1, Inst Inherited Metab Dis, Prague 12808 2, Czech Republic

Dvorakova, L
论文数: 0 引用数: 0
h-index: 0
机构: Charles Univ, Fac Med 1, Inst Inherited Metab Dis, Prague 12808 2, Czech Republic

Ledvinova, J
论文数: 0 引用数: 0
h-index: 0
机构: Charles Univ, Fac Med 1, Inst Inherited Metab Dis, Prague 12808 2, Czech Republic

Magage, S
论文数: 0 引用数: 0
h-index: 0
机构: Charles Univ, Fac Med 1, Inst Inherited Metab Dis, Prague 12808 2, Czech Republic

Bultas, J
论文数: 0 引用数: 0
h-index: 0
机构: Charles Univ, Fac Med 1, Inst Inherited Metab Dis, Prague 12808 2, Czech Republic

Lubanda, JC
论文数: 0 引用数: 0
h-index: 0
机构: Charles Univ, Fac Med 1, Inst Inherited Metab Dis, Prague 12808 2, Czech Republic

Elleder, M
论文数: 0 引用数: 0
h-index: 0
机构: Charles Univ, Fac Med 1, Inst Inherited Metab Dis, Prague 12808 2, Czech Republic

Karetova, D
论文数: 0 引用数: 0
h-index: 0
机构: Charles Univ, Fac Med 1, Inst Inherited Metab Dis, Prague 12808 2, Czech Republic

论文数: 引用数:
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Hrebicek, M
论文数: 0 引用数: 0
h-index: 0
机构: Charles Univ, Fac Med 1, Inst Inherited Metab Dis, Prague 12808 2, Czech Republic
[10]
X-chromosome inactivation in female patients with Fabry disease
[J].
Echevarria, L.
;
Benistan, K.
;
Toussaint, A.
;
Dubourg, O.
;
Hagege, A. A.
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Eladari, D.
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Jabbour, F.
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Beldjord, C.
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De Mazancourt, P.
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Germain, D. P.
.
CLINICAL GENETICS,
2016, 89 (01)
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Echevarria, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Versailles, Div Med Genet, F-78180 Montigny, France
AP HP, Referral Ctr Fabry Dis & Inherited Disorders Conn, Garches, France Univ Versailles, Div Med Genet, F-78180 Montigny, France

Benistan, K.
论文数: 0 引用数: 0
h-index: 0
机构:
AP HP, Referral Ctr Fabry Dis & Inherited Disorders Conn, Garches, France Univ Versailles, Div Med Genet, F-78180 Montigny, France

Toussaint, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris V Descartes, Lab Biochem & Mol Biol, Paris, France Univ Versailles, Div Med Genet, F-78180 Montigny, France

Dubourg, O.
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Univ Versailles, Dept Cardiol, Boulogne, France Univ Versailles, Div Med Genet, F-78180 Montigny, France

Hagege, A. A.
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Univ Paris V Descartes, HEGP APHP, Dept Cardiol, Paris, France Univ Versailles, Div Med Genet, F-78180 Montigny, France

Eladari, D.
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Univ Paris V Descartes, HEGP APHP, Dept Physiol, Paris, France Univ Versailles, Div Med Genet, F-78180 Montigny, France

Jabbour, F.
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AP HP, Referral Ctr Fabry Dis & Inherited Disorders Conn, Garches, France Univ Versailles, Div Med Genet, F-78180 Montigny, France

Beldjord, C.
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Univ Paris V Descartes, Lab Biochem & Mol Biol, Paris, France Univ Versailles, Div Med Genet, F-78180 Montigny, France

De Mazancourt, P.
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Univ Versailles, UFR Sci Sante, F-78180 Montigny, France Univ Versailles, Div Med Genet, F-78180 Montigny, France

Germain, D. P.
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机构:
Univ Versailles, Div Med Genet, F-78180 Montigny, France
AP HP, Referral Ctr Fabry Dis & Inherited Disorders Conn, Garches, France
Univ Versailles, UFR Sci Sante, F-78180 Montigny, France Univ Versailles, Div Med Genet, F-78180 Montigny, France