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1

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

Beck, Michael, Hughes, Derralynn, Kampmann, Christoph, Larroque, Sylvain, Mehta, Atul, Pintos-Morell, Guillem, Ramaswami, Uma, West, Michael, Wijatyk, Anna, Giugliani, Roberto

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 74 KB

english, 2015

2

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

Martín-Hernández, Elena, Aldámiz-Echevarría, Luis, Castejón-Ponce, Esperanza, Pedrón-Giner, Consuelo, Couce, María Luz, Serrano-Nieto, Juliana, Pintos-Morell, Guillem, Bélanger-Quintana, Amaya, Martín

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 413 KB

english, 2014

3

Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy: A 10-year Fabry Outcome Survey analysis

Ramaswami, Uma, Beck, Michael, Hughes, Derralynn, Kampmann, Christoph, Bizjajeva, Svetlana, Pintos-Morell, Guillem, West, Michael, Niu, Dau-Ming, Nicholls, Kathy, Giugliani, Roberto

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 54 KB

english, 2016

4

Exercise and Preexercise Nutrition as Treatment for McArdle Disease

NOGALES-GADEA, GISELA, SANTALLA, ALFREDO, BALLESTER-LOPEZ, ALFONSINA, ARENAS, JOAQUÍN, MARTÍN, MIGUEL ANGEL, GODFREY, RICHARD, PINÍS, TOMÀS, PINTOS-MORELL, GUILLEM, COLL-CANTÍ, JAUME, LUCIA, ALEJANDRO

Journal:

Medicine & Science in Sports & Exercise

Year:

2016

Language:

english

File:

PDF, 385 KB

english, 2016

5

Paediatric Fabry disease: prognostic significance of ocular changes for disease severity

Kalkum, Gisela, Pitz, Susanne, Karabul, Nesrin, Beck, Michael, Pintos-Morell, Guillem, Parini, Rossella, Rohrbach, Marianne, Bizjajeva, Svetlana, Ramaswami, Uma

Journal:

BMC Ophthalmology

Year:

2016

Language:

english

File:

PDF, 568 KB

english, 2016

6

Stroke characterisation and description of identified risk factors in a Fabry disease large cohort

Moreno-MartÃnez, David, Lucas-Del-Pozo, Sara, Lavalle, Lucia, Pintos-Morell, Guillem, Ramaswami, Uma, Hughes, Derralynn A.

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 342 KB

2020

7

A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy

Javier Torres-Torronteras, Agustí Rodriguez-Palmero, Tomàs Pinós, Anna Accarino, Antoni L. Andreu, Guillem Pintos-Morell, Ramon Martíí

Journal:

Year:

2011

Language:

english

File:

PDF, 356 KB

english, 2011

8

Molybdenum cofactor deficiency associated with Dandy-Walker malformation

G. Pintos-Morell, M. A. Naranjo, M. Artigas, M. Roge, M. Rodes, M. J. Coll, J. L. Johnson, K. V. Rajagopalan

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 133 KB

english, 1995

9

Increased monocyte-dependent suppression of polyclonal activation of B lymphocytes from cystinotic children

Guillem Pintos-Morell, Geneviève Jean, Michèle Dechaux, Patrick Niaudet

Journal:

Pediatric Nephrology

Year:

1991

Language:

english

File:

PDF, 736 KB

english, 1991

10

Anti-neutrophil cytoplasmic auto-antibodies-associated vasculitis with pulmonary and renal involvement

G. Pintos-Morell, A. Roca-Comas, M. A. Naranjo, C. Tural, E. Abad, G. Javier, J. Prats

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 365 KB

english, 1993

11

Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novelTRPM6mutation

Dolors Esteban-Oliva, Guillem Pintos-Morell, Martin Konrad

Journal:

European Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 88 KB

english, 2009

12

Fabry disease in children and the effects of enzyme replacement treatment

Guillem Pintos-Morell, Michael Beck

Journal:

European Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 293 KB

english, 2009

13

Fabry disease and the skin: data from FOS, the Fabry outcome survey

C.H. Orteu, T. Jansen, O. Lidove, R. Jaussaud, D.A. Hughes, G. Pintos-Morell, U. Ramaswami, R. Parini, G. Sunder-Plassman, M. Beck, A.B. Mehta, on behalf of the FOS Investigators

Journal:

British Journal of Dermatology

Year:

2007

Language:

english

File:

PDF, 486 KB

english, 2007

14

Tyrosinemia type 1 in Spain: Mutational analysis, treatment and long-term outcome

Maria Luz Couce, Jaime Dalmau, Mireia del Toro, Guillem Pintos-Morell, Luís Aldámiz-Echevarría, Spanish Working Group on Tyrosinemia type1

Journal:

Pediatrics International

Year:

2011

Language:

english

File:

PDF, 121 KB

english, 2011

15

Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS)

M.-Á. Barba-Romero, A. Rivera-Gallego, G. Pintos-Morell, on behalf of the Spanish FOS-Study Group

Journal:

International Journal of Clinical Practice

Year:

2011

Language:

english

File:

PDF, 138 KB

english, 2011

16

Renal anaphylaxis. I. Antigen-initiated responses from isolated perfused rat kidney

Pirotzky, Eduardo, Pintos-Morell, Guillem, Burtin, Claude, Boudet, Jane, Bidault, Jocelyne, Benveniste, Jacques

Journal:

Kidney International

Year:

1987

Language:

english

File:

PDF, 538 KB

english, 1987

17

Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey

Uma Ramaswami, Catharina Whybra, Rosella Parini, Guillem Pintos-Morell, Atul Mehta, Gere Sunder-Plassmann, Urs Widmer, Michael Beck, ON BEHALF OF THE FOS EUROPEAN INVESTIGATORS

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 84 KB

english, 2006

18

Enzyme replacement therapy with agalsidase alfa in children with Fabry disease

U Ramaswami, S Wendt, G Pintos-Morell, R Parini, C Whybra, J A Leon Leal, F Santus, M Beck

Journal:

Acta Paediatrica

Year:

2007

Language:

english

File:

PDF, 121 KB

english, 2007

19

Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey

U Ramaswami, R Parini, G Pintos-Morell, G Kalkum, C Kampmann, M Beck, on behalf of the FOS Investigators

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 568 KB

english, 2012

20

Corrigendum to “Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with a E158X BSCL2 mutation” [Eur. J. Med. Genet. 52 (1) (2009) 14–16]

B. Friguls, W. Coroleu, Del Alcazar, P. Hilbert, L. Van Maldergem, G. Pintos-Morell

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 160 KB

english, 2009

21

Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation

B. Friguls, W. Coroleu, R. del Alcazar, P. Hilbert, L. Van Maldergem, G. Pintos-Morell

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 234 KB

english, 2009

22

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)

C. Alcalde-Martín, J.M. Muro-Tudelilla, R. Cancho-Candela, L.G. Gutiérrez-Solana, G. Pintos-Morell, M. Martí-Herrero, P. Munguira-Aguado, E. Galán-Gómez

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 297 KB

english, 2010

23

Déficit de biotinidasa: las dos caras del cribado metabólico

Guillem Pintos-Morell

Journal:

Medicina Clínica

Year:

2011

File:

PDF, 149 KB

2011

24

PSY7 EVALUATION OF MEASURES UNDERTAKEN TO ENHANCE THE ROBUSTNESS OF THE FABRY OUTCOME SURVEY (FOS)

J Clarke, M Beck, R Giugliani, G Sunder-Plassmann, P Elliott, E Hernberg-Stahl, G Pintos-Morell

Journal:

Value in Health

Year:

2009

Language:

english

File:

PDF, 79 KB

english, 2009

25

Síndrome de Sotos: nueva mutación «sin sentido» del gen NSD1 que presenta cutis laxa neonatal

E. Cortès-Saladelafont, K. Arias-Sáez, D. Esteban-Oliva, W. Coroleu-Lletget, P. Martín-Jiménez, G. Pintos-Morell

Journal:

Anales de Pediatría

Year:

2011

File:

PDF, 1.06 MB

2011

26

Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (FOS)

Joe T.R. Clarke, Roberto Giugliani, Gere Sunder-Plassmann, Perry M. Elliott, Guillem Pintos-Morell, Elizabeth Hernberg-Ståhl, Maria Malmenäs, Michael Beck

Journal:

Value in Health

Year:

2011

Language:

english

File:

PDF, 687 KB

english, 2011

27

PND44 Validation of the Fabry Outcome Survey (FOS) Paediatric Health and Pain Questionnaire

M. Raluy, I. Wiklund, D.E. Stull, W.H. Chen, U. Ramaswami, C. Whybra, G. Kalkum, G. Pintos-morell, R. Parini, M. Rohrbach, M. Beck

Journal:

Value in Health

Year:

2011

Language:

english

File:

PDF, 60 KB

english, 2011

28

Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)

Ramaswami, Uma, Stull, Donald E, Parini, Rossella, Pintos-Morell, Guillem, Whybra, Catharina, Kalkum, Gisela, Rohrbach, Marianne, Raluy-Callado, Mireia, Beck, Michael, Chen, Wen-Hung, Wiklund, Ingela

Journal:

Health and Quality of Life Outcomes

Year:

2012

Language:

english

File:

PDF, 189 KB

english, 2012

29

Increase in left ventricular mass index and acroparesthesia incidence in children with Fabry disease correlates with their GLA mutation

Ramaswami, Uma, Beck, Michael, Kalkum, Gisela, Larroque, Sylvain, Parini, Rossella, Pintos-Morell, Guillem, Rohrbach, Marianne, Gal, Andreas

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 65 KB

english, 2013

30

Fe de errores de «Enfermedad de Fabry: espectro clínico de los angioqueratomas»

Guinovart, R.M., Bielsa, I., Pintos-Morell, G., Ferrándiz, C.

Journal:

Actas Dermo-Sifiliográficas (Spanish Edition)

Year:

2013

File:

PDF, 180 KB

2013

31

Enfermedad de Fabry: espectro clínico de los angioqueratomas

Guinovart, R.M., Bielsa, I., Pintos-Morell, G., Ferrándiz, C.

Journal:

Actas Dermo-Sifiliográficas (Spanish Edition)

Year:

2013

File:

PDF, 412 KB

2013

32

Fabry Disease and the Clinical Spectrum of Angiokeratomas

Guinovart, R.M., Bielsa, I., Pintos-Morell, G., Ferrándiz, C.

Journal:

Actas Dermo-Sifiliográficas (English Edition)

Year:

2013

Language:

english

File:

PDF, 390 KB

english, 2013

33

Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature

Lidove, Olivier, West, Michael L, Pintos-Morell, Guillem, Reisin, Ricardo, Nicholls, Kathy, Figuera, Luis E, Parini, Rossella, Carvalho, Luiz R, Kampmann, Christoph, Pastores, Gregory M, Mehta, Atul

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 466 KB

english, 2010

34

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry

Auray-Blais, Christiane, Blais, Catherine-Marie, Ramaswami, Uma, Boutin, Michel, Germain, Dominique P., Dyack, Sarah, Bodamer, Olaf, Pintos-Morell, Guillem, Clarke, Joe T.R., Bichet, Daniel G., Warnoc

Journal:

Clinica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 1.86 MB

english, 2015

35

Cytochrome c Oxidase Deficiency in Muscle With Dicarboxylic Aciduria and Renal Tubular Acidosis

Pintos-Morell, G., Haas, R., Prodanos, C., DiMauro, S., Nyhan, W. L.

Journal:

Journal of Child Neurology

Year:

1990

Language:

english

File:

PDF, 548 KB

english, 1990

36

Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey

Ramaswami, Uma, Whybra, Catharina, Parini, Rosella, Pintos-Morell, Guillem, Mehta, Atul, Sunder-Plassmann, Gere, Widmer, Urs, Beck, Michael, BEHALF OF THE FOS EUROPEAN INVESTIG, ON

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 91 KB

english, 2006

37

Trichorhinophalangeal syndrome, type I, with avascular necrosis of the femoral head

Minguella, I, Ubierna, M, Escola, J, Roca, A, Prats, J, Pintos-Morell, G

Journal:

Acta Paediatrica

Year:

1993

Language:

english

File:

PDF, 218 KB

english, 1993

38

Book Reviews

Minguella, I, Ubierna, M, Escola, J, Roca, A, Prats, J, Pintos-Morell, G

Journal:

Acta Paediatrica

Year:

1993

Language:

english

File:

PDF, 125 KB

english, 1993

39

Announcements

Minguella, I, Ubierna, M, Escola, J, Roca, A, Prats, J, Pintos-Morell, G

Journal:

Acta Paediatrica

Year:

1993

Language:

english

File:

PDF, 63 KB

english, 1993

40

Ophthalmological manifestations in Fabry disease children in the Fabry Outcome Survey

Karabul, Nesrin, Pitz, Susanne, Kalkum, Gisela, Pintos-Morell, Guillem, Parini, Rossella, Rohrbach, Marianne, Ramaswami, Uma

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 194 KB

english, 2015

41

Therapeutic goals in the treatment of Fabry disease

Mehta, Atul, West, Michael L, Pintos-Morell, Guillem, Reisin, Ricardo, Nicholls, Kathy, Figuera, Luis E, Parini, Rossella, Carvalho, Luiz R, Kampmann, Christoph, Pastores, Gregory M, Lidove, Olivier

Journal:

Genetics in Medicine

Year:

2010

File:

PDF, 256 KB

2010

42

Therapeutic goals in the treatment of Fabry disease

Mehta, Atul, West, Michael L, Pintos-Morell, Guillem, Reisin, Ricardo, Nicholls, Kathy, Figuera, Luis E, Parini, Rossella, Carvalho, Luiz R, Kampmann, Christoph, Pastores, Gregory M, Lidove, Olivier

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 256 KB

english, 2010

43

Altered Leukotriene Generation in Leukocytes from Cystinotic Children

Pintos-Morell, Guillem, Salem, Patrick, Jean, Geneviève, Niaudet, Patrick, Mencia-Huerta, Jean Michel

Journal:

Pediatric Research

Year:

1994

Language:

english

File:

PDF, 740 KB

english, 1994

44

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

Beck, Michael, Hughes, Derralynn, Kampmann, Christoph, Larroque, Sylvain, Mehta, Atul, Pintos-Morell, Guillem, Ramaswami, Uma, West, Michael, Wijatyk, Anna, Giugliani, Roberto

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 413 KB

english, 2015

45

Genes and exercise intolerance: insights from McArdle disease

Nogales-Gadea, Gisela, Godfrey, Richard, Santalla, Alfredo, Coll-Cantí, Jaume, Pintos-Morell, Guillem, Pinós, Tomàs, Arenas, Joaquín, Martín, Miguel Angel, Lucia, Alejandro

Journal:

Physiological Genomics

Year:

2016

Language:

english

File:

PDF, 688 KB

english, 2016

46

Efficacité à long terme de l’agalsidase alfa dans la maladie de Fabry : analyses issues des données du registre FOS (Fabry Outcome Survey)

Beck, M., Kampmann, C., Hughes, D., Mehta, A., Ramaswami, U., Pintos-Morell, G., Wijatyk, A., Giugliani, R.

Journal:

La Revue de Médecine Interne

Year:

2015

Language:

french

File:

PDF, 65 KB

french, 2015

47

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

Beck, Michael, Hughes, Derralynn, Kampmann, Christoph, Bizjajeva, Svetlana, Pintos-Morell, Guillem, Ramaswami, Uma, West, Michael, Giugliani, Roberto

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 54 KB

english, 2016

48

A 15-Year Perspective of the Fabry Outcome Survey

Giugliani, Roberto, Niu, Dau-Ming, Ramaswami, Uma, West, Michael, Hughes, Derralynn, Kampmann, Christoph, Pintos-Morell, Guillem, Nicholls, Kathleen, Schenk, Jörn-Magnus, Beck, Michael

Journal:

Journal of Inborn Errors of Metabolism & Screening

Year:

2016

Language:

english

File:

PDF, 1.07 MB

english, 2016

49

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

Beck, Michael, Hughes, Derralynn, Kampmann, Christoph, Pintos-Morell, Guillem, Ramaswami, Uma, West, Michael L., Giugliani, Roberto

Journal:

Molecular Genetics and Metabolism Reports

Year:

2018

Language:

english

File:

PDF, 270 KB

english, 2018

50

Myotilinopathy unmasked by statin treatment: A case report

Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Almendrote, Míriam, Lucente, Giuseppe, Carrato, Cristina, Ballester-Lopez, Alfonsina, Lucia, Alejandro, Pintos-Morell, Guillem, Nogales-Gadea, Gisela, Col

Journal:

Year:

2018

Language:

english

File:

PDF, 628 KB

english, 2018

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